Article
Molecular investigation of TBP allele length: a SCA17 cellular model and population study.
Neurobiology of disease - 1 Jun 2003
Reid Suzanne J, Rees Mark I, van Roon-Mom Willeke M C, Jones A Lesley, MacDonald Marcy E, Sutherland Greg, During Matthew J, Faull Richard L M, Owen Michael J, Dragunow Mike, Snell Russell G
Abstract excerpt
Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP). The normal repeat range is 25-42 units with patients having as few as 46 repeats. We undertook a TBP repeat length population study showing its relative stability, skewed distribution, and substantial population specific differences. To...
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