Article
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.
American journal of human genetics - 1 Mar 2000
Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo De Matos J M, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J
Abstract excerpt
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). 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. Recently, an untranslated (CTG)n expansion on...
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