Article
Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.
Clinical genetics - 1 Feb 2014
Magaña J J, Tapia-Guerrero Y S, Velázquez-Pérez L, Cerecedo-Zapata C M, Maldonado-Rodríguez M, Jano-Ito J S, Leyva-García N, González-Piña R, Martínez-Cruz E, Hernández-Hernández O, Cisneros B
Abstract excerpt
Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders. CAG (cytosine-adenine-guanine) trinucleotide repeat expansions in the causative genes have been identified as the cause of different SCA. In this study, we simultaneously genotyped SCA1, SCA2, SCA3, SCA6, and SCA7 applying a fluorescent multiplex polymerase chain reaction assay. We analyzed 10 families with SCA (64 patients)...
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