Article
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Human genetics - 1 Jun 2005
Verbeek Dineke S, Warrenburg Bart P C van de, Hennekam F A M, Dooijes Dennis, Ippel P F, Verschuuren-Bemelmans Corien C, Kremer H P H, Sinke Richard J
Abstract excerpt
Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we found in a large Dutch autosomal dominant cerebellar ataxia (ADCA) family. We subsequently screened the current Dutch ataxia cohort (approximately 900 individuals) for SCA14 mutations in the Cys2 region of the PRKCG gene. We identified the Gly118Asp...
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