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Registros recuperados: 53
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A case of severe glutathione synthetase deficiency with novel GSS mutations BJMBR
Xia,H.; Ye,J.; Wang,L.; Zhu,J.; He,Z..
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD...
Tipo: Info:eu-repo/semantics/report Palavras-chave: Glutathione synthetase; 5-oxoprolinuria; Newborn; Metabolism; Mutation.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300501
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A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia Genet. Mol. Biol.
Shotelersuk,Vorasuk; Jaruratanasirikul,Somchit; Sinthuwiwat,Thivaratana; Janjindamai,Waricha.
Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SOX9; Campomelic dysplasia; Mutation.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007
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Amplification of 9q34 in childhood adrenocortical tumors: a specific feature unrelated to ethnic origin or living conditions BJMBR
Figueiredo,B.C.; Ribeiro,R.C.; Zambetti,G.; Haddad,B.; Pianovsky,M.D.; Pereira,R.M.; DeLacerda,L.; Sandrini,R..
Adrenocortical tumors (ACT) in children under 15 years of age exhibit some clinical and biological features distinct from ACT in adults. Cell proliferation, hypertrophy and cell death in adrenal cortex during the last months of gestation and the immediate postnatal period seem to be critical for the origin of ACT in children. Studies with large numbers of patients with childhood ACT have indicated a median age at diagnosis of about 4 years. In our institution, the median age was 3 years and 5 months, while the median age for first signs and symptoms was 2 years and 5 months (N = 72). Using the comparative genomic hybridization technique, we have reported a high frequency of 9q34 amplification in adenomas and carcinomas. This finding has been confirmed more...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Adrenocortical carcinoma; Cancer; Mutation; 9q34 amplification.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000012
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Beta-glucosidase from normal and brittle-stem mutant rice cultivars (Oryza sativa L.) : isolation, purification and characterization International Rice Research Institute
Bongon, Joseph R..
xiii, 88 leaves : ill. Thesis (M.S.) -- University of the Philippines at Los Baños
Tipo: Thesis Palavras-chave: Rice; Enzymes; Beta-glucosidase; Varieties; Mutation.
Ano: 1994 URL: http://hdl.handle.net/123456789/696
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Biodiversité, mutations agricoles et dynamique des paysages méditerranéens sous influence urbaine National Institute of Agronomic Research
Dumas, Estelle; Napoléone, Claude; Géniaux, Ghislain; Vaissière, Bernard; Tatoni, Thierry.
Tipo: Working Paper Palavras-chave: Biodiversity; Ecology; Dynamic population; Agronomy; Mutation; Biodiversité; Ecology; Dynamique des populations; Agronomie; Mutation.
Ano: 2008 URL: http://hdl.handle.net/2174/183
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Characteristics of hospitalized children infected with macrolide-resistant Mycoplasma pneumoniae BJID
Komatsu,Haruki; Tsunoda,Tomoyuki; Inui,Ayano; Sogo,Tsuyoshi; Fujisawa,Tomoo.
BACKGROUND: The aim of this study was to clarify retrospectively the characteristics of children hospitalized for respiratory tract infection caused by macrolide-resistant Mycoplasma pneumoniae (M. pneumoniae).METHODS: Children who were hospitalized for respiratory tract infection due to M. pneumoniae were enrolled in this study. The diagnosis of M. pneumoniae infection was made on the grounds of polymerase chain reaction results.RESULTS: Thirty-three children were hospitalized due to lower respiratory tract infection with M. pneumoniae. Of the 33 children, 31 (median age five years) were identified as being infected with macrolide-resistant M. pneumoniae (A2063G:30, A2064G:1) by sequence analysis. Of the 31 children infected with macrolide-resistant M....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Antibiotics; Minocycline; Mutation; Young children.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702014000300294
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Clavulanic acid production by the MMS 150 mutant obtained from wild type Streptomyces clavuligerus ATCC 27064 BJM
Vasconcelos,Eliton da Silva; Lima,Vanderlei Aparecido de; Goto,Leandro Seiji; Cruz-Hernández,Isara Lourdes; Hokka,Carlos Osamu.
Clavulanic acid (CA) is a powerful inhibitor of the beta-lactamases, enzymes produced by bacteria resistants to penicillin and cefalosporin. This molecule is produced industrially by strains of Streptomyces clavuligerus in complex media which carbon and nitrogen resources are supplied by inexpensive compounds still providing high productivity. The genetic production improvement using physical and chemical mutagenic agents is an important strategy in programs of industrial production development of bioactive metabolites. However, parental strains are susceptible to loss of their original productivity due genetic instability phenomenona. In this work, some S. clavuligerus mutant strains obtained by treatment with UV light and with MMS are compared with the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Clavulanic acid; Streptomyces clavuligerus; Mutation; Lipase.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822013000400005
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Contribution of flagella and motility to gut colonisation and pathogenicity of Salmonella Enteritidis in the chicken BJM
Barbosa,Fernanda de Oliveira; Freitas Neto,Oliveiro Caetano de; Batista,Diego Felipe Alves; Almeida,Adriana Maria de; Rubio,Marcela da Silva; Alves,Lucas Bocchini Rodrigues; Vasconcelos,Rosemeire de Oliveira; Barrow,Paul Andrew; Berchieri Junior,Angelo.
ABSTRACT Salmonella Enteritidis causes fowl paratyphoid in poultry and is frequently associated to outbreaks of food-borne diseases in humans. The role of flagella and flagella-mediated motility into host-pathogen interplay is not fully understood and requires further investigation. In this study, one-day-old chickens were challenged orally with a wild-type strain Salmonella Enteritidis, a non-motile but fully flagellated (SE ΔmotB) or non-flagellated (SE ΔfliC) strain to evaluate their ability to colonise the intestine and spread systemically and also of eliciting gross and histopathological changes. SE ΔmotB and SE ΔfliC were recovered in significantly lower numbers from caecal contents in comparison with Salmonella Enteritidis at early stages of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Flagellum; Virulence factors; Poultry; Gut colonisation.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822017000400754
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Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuria BJMBR
Franco de Carvalho,R.; Arruda,V.R.; Saad,S.T.O.; Costa,F.F..
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal syndrome characterized by intravascular hemolysis mediated by complement, thrombotic events and alterations in hematopoiesis. Basically, the molecular events which underlie the complexity of the syndrome consist of the absence of the glycosylphosphatidylinositol (GPI) anchor as a consequence of somatic mutations in the PIG-A gene, located on the X chromosome. The GPI group is responsible for the attachment of many proteins to the cytoplasmic membrane. Two of them, CD55 and CD59, have a major role in the inhibition of the action of complement on the cellular membrane of blood cells. The absence of GPI biosynthesis can lead to PNH. Since mutations in the PIG-A gene are always present in patients...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Paroxysmal nocturnal hemoglobinuria; Intravascular hemolysis; Complement PIG-A; Mutation.
Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600010
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Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib Genet. Mol. Biol.
Carlin,Marcelo Paschoalete; Scherrer,Daniel Zanetti; Tommaso,Adriana Maria Alves De; Bertuzzo,Carmen Silvia; Steiner,Carlos Eduardo.
Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes. In this study, twelve unrelated patients with clinical symptoms suggestive of GSDIa and Ib were investigated by using genetic sequencing of G6PC and SLC37A4 genes, being three confirmed as having GSD Ia, and two with GSD Ib. In seven of these patients no mutations...
Tipo: Info:eu-repo/semantics/other Palavras-chave: DNA-based diagnosis; Glycogen storage disease; G6PC; SLC37A4; Mutation.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400007
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Effects of β-glucan polysaccharide revealed by the dominant lethal assay and micronucleus assays, and reproductive performance of male mice exposed to cyclophosphamide Genet. Mol. Biol.
Oliveira,Rodrigo Juliano; Pesarini,João Renato; Salles,Maria José Sparça; Kanno,Tatiane Yumi Nakamura; Lourenço,Ana Carolina dos Santos; Leite,Véssia da Silva; Silva,Ariane Fernanda da; Matiazi,Hevenilton José; Ribeiro,Lúcia Regina; Mantovani,Mário Sérgio.
β-glucan is a well-known polysaccharide for its chemopreventive effect. This study aimed to evaluate the chemopreventive ability of β-glucan in somatic and germ cells through the dominant lethal and micronucleus assays, and its influence on the reproductive performance of male mice exposed to cyclophosphamide. The results indicate that β-glucan is capable of preventing changes in DNA in both germ cells and somatic ones. Changes in germ cells were evaluated by the dominant lethal assay and showed damage reduction percentages of 46.46% and 43.79% for the doses of 100 and 150 mg/kg. For the somatic changes, evaluated by micronucleus assay in peripheral blood cells in the first week of treatment, damage reduction percentages from 80.63-116.32% were found. In...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Post-implantation losses; Chemoprevention; Micronucleus; Nulliparous females.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100017
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Enzyme activity and thermostability of a non-specific nuclease from Yersinia enterocolitica subsp. palearctica by site-directed mutagenesis Electron. J. Biotechnol.
Zhang,Yu; Li,Zhen-Hua; Zheng,Wei; Tang,Zhen-Xing; Zhang,Zhi-Liang; Shi,Lu-E.
Background: To identify the critical amino acid residues that contribute to the high enzyme activity and good thermostability of Yersinia enterocolitica subsp. palearctica (Y. NSN), 15 mutants of Y. NSN were obtained by site-directed mutagenesis in this study. And their enzyme activity and thermostability were assayed. Effect of several factors on the enzyme activity and thermostability of Y. NSN, was also investigated. Results: The results showed that the I203F and D264E mutants retained approximately 75% and 70% enzyme activity, respectively, compared to the wild-type enzyme. In addition to the I203F and D264E mutants, the mutant E202A had an obvious influence on the thermostability of Y. NSN. According to the analysis of enzyme activity and...
Tipo: Journal article Palavras-chave: Factors affecting enzyme activity; Nuclease; Mutation; Mutagenesis; Nucleases without sequence specificity.
Ano: 2016 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582016000600005
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Epidermal growth factor receptor (EGFR) mutations in lung cancer: preclinical and clinical data BJMBR
Jorge,S.E.D.C.; Kobayashi,S.S.; Costa,D.B..
Lung cancer leads cancer-related mortality worldwide. Non-small-cell lung cancer (NSCLC), the most prevalent subtype of this recalcitrant cancer, is usually diagnosed at advanced stages, and available systemic therapies are mostly palliative. The probing of the NSCLC kinome has identified numerous nonoverlapping driver genomic events, including epidermal growth factor receptor (EGFR) gene mutations. This review provides a synopsis of preclinical and clinical data on EGFR mutated NSCLC and EGFR tyrosine kinase inhibitors (TKIs). Classic somatic EGFR kinase domain mutations (such as L858R and exon 19 deletions) make tumors addicted to their signaling cascades and generate a therapeutic window for the use of ATP-mimetic EGFR TKIs. The latter inhibit these...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Lung cancer; Non-small-cell lung cancer; EGFR; EGFR inhibitor; Precision therapies; Resistance.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001100929
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Factor 9 de crecimiento y diferenciación asociado al índice de prolificidad en la oveja pelibuey. Colegio de Postgraduados
Pérez Ruíz, Elizabeth.
El Factor 9 de Crecimiento y Diferenciación (GDF9) es miembro de la súperfamilia β de factores de crecimiento (TGFβ) y su expresión en el ovocito es esencial para el desarrollo y crecimiento folicular. Diferentes mutaciones en el gen GDF9 han sido asociadas con el incremento de tasa de ovulación y/o prolificidad en algunas razas de ovejas, por lo que el objetivo de este estudio fue la búsqueda de polimorfismos de una sola base (SNPs) en el gen GDF9, así como la asociación entre polimorfismos del gen GDF9 y el índice de prolificidad en ovejas de la raza Pelibuey. Se tomaron muestras sanguíneas de la vena yugular de 16 ovejas y fueron conservadas en papel FTA® (Whatman Mini Card). El exón dos del gen fue amplificado mediante la técnica de Polimerase Chain...
Palavras-chave: Análisis de secuencias; GDF9; Mutación; Polimorfismo; PCR; SNP; Sequence analysis; Mutation; Polymorphism; Maestría; Ganadería.
Ano: 2012 URL: http://hdl.handle.net/10521/1712
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Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism Arq. Bras. Med. Vet. Zootec.
De Marco,V.; Carvalho,L.R.; Billerbeck,A.E.C.; Mendonça,B.B..
There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71±2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Dog; ACTH-dependent hyperadrenocorticism; Tpit; Mutation.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000400010
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Hepatitis B virus genotypes, precore mutations, and basal core promoter mutations in HBV-infected Chinese patients with persistently normal alanine aminotransferase and low serum HBV-DNA levels BJID
Shi,Ming; Zhang,Yong; Zhang,Jing; Liu,Wei; Xing,Lu.
Hepatitis B virus (HBV) genotype and precore and basal core promoter (BCP) mutants in the patients with persistently normal alanine aminotransferase (ALT) and low serum HBV-DNA levels are unclear. The aim of this study was to determine HBV genotypes, precore and BCP mutations, and their association with chronic hepatitis and liver fibrosis in HBV-infected patients with persistently normal ALT, and low serum HBV-DNA levels in northeast China. Patients (n = 89) with normal ALT and serum HBV-DNA levels below 20000 IU/mL but detectable with real-time PCR were included in this study. HBV genotypes were determined by real-time PCR. The precore and BCP mutations were detected by sequencing. All the patients had biopsy results. Of the 89 patients, 11 (12.4%) were...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hepatitis B virus; Genotype; Mutation; Alanine transaminase.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702012000100009
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Hepatitis B virus subgenotype C2- and B2-associated mutation patterns may be responsible for liver cirrhosis and hepatocellular carcinoma, respectively BJMBR
Chen,Y.M.; Wu,S.H.; Qiu,C.N.; Yu,D.J.; Wang,X.J..
The objective of this study was to examine hepatitis B virus (HBV) subgenotypes and mutations in enhancer II, basal core promoter, and precore regions of HBV in relation to risks of liver cirrhosis (LC) and hepatocellular carcinoma (HCC) in Southeast China. A case-control study was performed, including chronic hepatitis B (CHB; n=125), LC (n=120), and HCC (n=136). HBV was genotyped by multiplex polymerase chain reaction and subgenotyped by restriction fragment length polymorphism. HBV mutations were measured by DNA sequencing. HBV genotype C (68.2%) predominated and genotype B (30.2%) was the second most common. Of these, C2 (67.5%) was the most prevalent subgenotype, and B2 (30.2%) ranked second. Thirteen mutations with a frequency >5% were detected....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hepatitis B virus; Genotype; Core promoter; Precore; Mutation; Advanced liver disease.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000700614
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Identification of a mutation in the spike protein cleavage site in Brazilian strains of wild-type bovine coronavirus BJM
Takiuchi,Elisabete; Barreiros,Marco Antônio Bacellar; Alfieri,Alice Fernandes; Alfieri,Amauri Alcindo.
The spike (S) protein of coronaviruses, a type I membrane glycoprotein, is primarily responsible for entry into susceptible cells by binding with specific receptors on cells and mediating subsequent virus-cell fusion. The bovine coronavirus (BCoV) S protein is cleaved into two subunits, the N-terminal S1 and the C-terminal S2. The proteolytic cleavage site of S protein is highly conserved among BCoV strains and is located between amino acids 763 and 768 (KRRSRR). This study describes a single mutation in the S protein cleavage site of three Brazilian strains of BCoV detected in diarrheic fecal samples from calves naturally infected. The sequenced PCR products revealed that amino acid sequence of the cleavage site of our strains was KRRSSR, indicating a...
Tipo: Info:eu-repo/semantics/article Palavras-chave: BCoV; Sequencing; Spike protein; Cleavage site; Mutation.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822007000400021
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Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder Genet. Mol. Biol.
Golchin,Neda; Hajjari,Mohammadreza; Malamiri,Reza Azizi; Aminzadeh,Majid; Mohammadi-asl,Javad.
Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Metachromatic leukodystrophy disorder; ARSA gene; Mutation; Arylsulfatase A.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500759
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Impact of the number of failed therapeutic regimes on the development of resistance mutations to HIV-1 in northeast Brazil BJID
Medeiros,Melissa Soares; Arruda,Érico Antônio Gomes; Guerrant,Richard Littleton; Brown,Christopher Cooley; Lima,Aldo Ângelo Moreira.
Highly-potent antiretroviral therapy is necessary to avoid viral replication in HIV patients; however, it can favor the appearance of resistance mutations. The mutations 41L, 67N, 70R, 210W, 215Y/F, 219E/Q, 44D and 118I are defined as nucleoside analogous mutations (NAMs), because they affect the efficacy of all nucleoside reverse transcriptase inhibitors (NRTI). The mutation most frequently associated with non-nucleoside reverse transcriptase inhibitors (NNRTIs) is 103N. 33W/F, 82A/F/L/T, 84V and 90M are called protease inhibitor resistance-associated mutations (PRAM), because they are associated with resistance to several protease inhibitors (PI). This study evaluated the development of resistance mutations and examine the susceptibility of HIV with...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; HIV-1; Failure therapy; Antiretrovirals; Resistance.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702007000500002
Registros recuperados: 53
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