Article
A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.
Annals of human genetics - 1 Sept 2017
Faruq Mohammed, Magaña Jonathan J, Suroliya Varun, Narang Ankita, Murillo-Melo Nadia M, Hernández-Hernández Oscar, Srivastava Achal K, Mukerji Mitali
Abstract excerpt
Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms...
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