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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發表在:	Arquivos de Neuro-Psiquiatria
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
格式:	Article
語言:	英语
出版:	Thieme Revinter Publicações 2013-08-01
主題:	degeneracao hepatolenticular sinais e sintomas genetica
在線閱讀:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000800503&lng=en&tlng=en