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	Provedor de dados 56 (1) 74 (1) Autor Aminzadeh,Majid (1) Gaspar,P.A. (1) Giugliani,R. (1) Golchin,Neda (1) Hajjari,Mohammadreza (1) Malamiri,Reza Azizi (1) Mohammadi-asl,Javad (1) Pedron,C.G. (1) Pereira,M.L.S. (1) Mais... Palavra-chave Arylsulfatase A (2) ARSA gene (1) Metachromatic leukodystrophy (1) Metachromatic leukodystrophy disorder (1) Mutation (1) Pseudodeficiency (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2017 (1) 1999 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder 74 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 Arylsulfatase A pseudodeficiency in healthy Brazilian individuals 56 Pedron,C.G.; Gaspar,P.A.; Giugliani,R.; Pereira,M.L.S.. Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<FONT FACE="Symbol">®</font>G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7% (71 of 342 alleles) and 7.9% (27 of 342 alleles) for the 1524+95A<FONT FACE="Symbol">®</font>G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9%. This is the first report of ASA-PD allele frequency in a South American population. In addition,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Arylsulfatase A; Pseudodeficiency; Metachromatic leukodystrophy. Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000800002 Registros recuperados: 2 Primeira ... 1 ... Última

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