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p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil BJMBR
Vidigal,P.V.T.; Reis,F.J.C.; Boson,W.L.M.; De Marco,L.A.; Brasileiro-Filho,G..
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Among the various CF mutations, p.F508del is the most frequent, accounting for two-thirds of the global CF chromosomes, although showing great variability among populations. We have studied 115 unrelated CF patients from a mixed population of Minas Gerais (Brazil). To evaluate part of the DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, blood DNA was obtained and PCR was performed using two pairs of primers that anneal to exons 10 and 24 of the CFTR gene. The PCR product was then submitted to automatic sequencing using the ABI PRISM 310 Genetic Analyzer. The p.F508del mutation was found in 50 (21.7%) of 230 unrelated CF...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Cystic fibrosis; P.F508del; Cystic fibrosis transmembrane conductance regulator.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000800001
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Occult hepatitis B virus infection in liver transplant patients in a Brazilian referral center BJMBR
Ferrari,T.C.A.; Xavier,M.A.P.; Vidigal,P.V.T.; Amaral,N.S.; Diniz,P.A.; Resende,A.P.; Miranda,D.M.; Faria,A.C.; Lima,A.S.; Faria,L.C..
Estimates of occult hepatitis B virus (HBV) infection prevalence varies among different studies depending on the prevalence of HBV infection in the study population and on the sensitivity of the assay used to detect HBV DNA. We investigated the prevalence of occult HBV infection in cirrhotic patients undergoing liver transplantation in a Brazilian referral center. Frozen liver samples from 68 adults were analyzed using a nested polymerase chain reaction assay for HBV DNA. The specificity of the amplified HBV sequences was confirmed by direct sequencing of the amplicons. The patient population comprised 49 (72.1%) males and 19 (27.9%) females with a median age of 53 years (range=18-67 years). Occult HBV infection was diagnosed in three (4.4%) patients. The...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Occult hepatitis B virus infection; Hepatitis B virus; HBV DNA; Liver transplantation.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001100990
Registros recuperados: 2
Primeira ... 1 ... Última
 

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