Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

OBJECTIVE—Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the α(1A)-subunit of the voltage dependent calcium channel. The ai...

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Main Authors: Schols, L., Kruger, R., Amoiridis, G., Przuntek, H., Epplen, J., Riess, O.
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 1998
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2169927/
https://ncbi.nlm.nih.gov/pubmed/9436730
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