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Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan

✍ Scribed by M. Hayashi; Y. Adachi; M. Mori; T. Nakano; K. Nakashima


Book ID
109338594
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
474 KB
Volume
116
Category
Article
ISSN
0001-6314

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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