Title : High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Pub. Date : 2000 Mar

PMID : 10712199






1 Functional Relationships(s)
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1 The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. polyglutamine ataxin 2 Homo sapiens