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The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias

✍ Scribed by S. Di Donato


Book ID
105538393
Publisher
Springer Milan
Year
1998
Tongue
English
Weight
950 KB
Volume
19
Category
Article
ISSN
1590-1874

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## Abstract Autosomal dominant spinocerebellar ataxias (AD‐SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5′‐untranslated region of the __puratrophin‐1__ gene was found to be associated with one type of A