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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Schöls, L, Amoiridis, G, Epplen, J T, Langkafel, M, Przuntek, H, Riess, O
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1074043/
https://ncbi.nlm.nih.gov/pubmed/8937340
Tagiau: Ychwanegu Tag
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