Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil....

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Bibliographic Details
Main Authors: Ricardo Schmitt de Bem, Salmo Raskin, Dominique Araujo Muzzillo, Marta Mitiko Deguti, Eduardo Luiz Rachid Cancado, Thiago Ferreira Araujo, Maria Cristina Nakhle, Egberto Reis Barbosa, Renato Puppi Munhoz, Helio Afonso Ghizoni Teive
Format: Article
Language:English
Published: Thieme Revinter Publicações 2013-08-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
degeneracao hepatolenticular
sinais e sintomas
genetica
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000800503&lng=en&tlng=en
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