Article
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.
Journal of the neurological sciences - 15 Dec 2005
Craig Kate, Keers Sharon M, Walls Timothy J, Curtis Anne, Chinnery Patrick F
Abstract excerpt
OBJECTIVE: To determine the minimum prevalence of spinocerebellar ataxia type 17 (SCA17) in the north east of England. PATIENTS AND METHODS: A defined region containing 2,516,500 individuals with 192 families with undiagnosed ataxia, 90 patients with a Huntington's disease-like phenotype and 292 controls. The number of (CAG/CAA)(n) repeats in the SCA17/TBP gene was determined by fluorescent PCR and sequenced in...
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