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Article

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.

Turkish journal of medical sciences - 1 Jan 2015

Pazarci Perçin, Kasap Halil, Koç Ayşe Filiz, Altunbaşak Sakir, Erkoç Mehmet Ali

Abstract excerpt

BACKGROUND/AIM: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features....

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PMID: 26775375
DOI: 10.3906/sag-1402-101

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