Article
De novo expansion of intermediate alleles in spinocerebellar ataxia 7.
Human molecular genetics - 1 Oct 1998
Stevanin G, Giunti P, Belal G D, Dürr A, Ruberg M, Wood N, Brice A
Abstract excerpt
Spinocerebellar ataxia 7 (SCA7) is the eighth neurodegenerative disorder caused by a translated CAG repeat expansion. Normal SCA7 alleles carry from four to 35 CAG repeats, whereas pathological alleles carry from 37 to approximately 200. Intermediate alleles (IAs), with 28-35 repeats in the SCA7 gene are exceedingly rare in the general population and are not associated with the SCA7 phenotype, although they have...
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