Marked Phenotypic Heterogeneity Associated with Expansion of a CAG Repeat Sequence at the Spinocerebellar Ataxia 3/Machado-Joseph Disease Locus

The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neuro-degenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical feature...

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Библиографические подробности
Главные авторы: Cancel, Géraldine, Abbas, Nacer, Stevanin, Giovanni, Dürr, Alexandra, Chneiweiss, Hervé, Néri, Christian, Duyckaerts, Charles, Penet, Christiane, Cann, Howard M., Agid, Yves, Brice, Alexis
Формат: Artigo
Язык:Inglês
Опубликовано: 1995
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801502/
https://ncbi.nlm.nih.gov/pubmed/7573040
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