Listar por tema "Spinocerebellar ataxias"

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Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population

Gonzales-Sáenz, Claudia; Cruz-Rodriguez, Carolina; Espinoza Huertas, Keren Antonieta; Véliz-Otani, Diego; Marca, Victoria; Ortega, Olimpio; Milla-Neyra, Karina; Alvarez-Tejada, Jorge; Mazzetti, Pilar; Cornejo-Olivas, Mario (Springer, 2020)

Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal ...