Carregando...

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

OBJECTIVE: Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia with extensive phenotypic variability originally described in families of Portuguese ancestry. Recently, the mutation causing the disease has been identified as an expanded CAG trinucleotide repeat. In this study rela...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: Schöls, L, Amoiridis, G, Epplen, J T, Langkafel, M, Przuntek, H, Riess, O
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1074043/
https://ncbi.nlm.nih.gov/pubmed/8937340
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!