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

Arquivos de neuro-psiquiatria - 1 Aug 2013

Bem Ricardo Schmitt de, Raskin Salmo, Muzzillo Dominique Araújo, Deguti Marta Mitiko, Cançado Eduardo Luiz Rachid, Araújo Thiago Ferreira, Nakhle Maria Cristina, Barbosa Egberto Reis, Munhoz Renato Puppi, Teive Hélio Afonso Ghizoni

Abstract excerpt

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. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen...

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PMID: 23982005
DOI: 10.1590/0004-282X20130078

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