Article
Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.
American journal of human genetics - 1 Jun 1990
Auburger G, Diaz G O, Capote R F, Sanchez S G, Perez M P, del Cueto M E, Meneses M G, Farrall M, Williamson R, Chamberlain S
Abstract excerpt
The locus for autosomal dominant ataxia with a diagnosis of olivo-ponto-cerebellar atrophy at autopsy has been previously assigned to chromosome 6p. However, evidence for two alternative locations has been reported. We have recently described a large potential founder-effect population of such patients in the Holguin province of Cuba. With an estimated 1,000 patients available for analysis, this extensive cluster...
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