Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2004.00356.x/fullpdf
Reference26 articles.
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2. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17);Rolfs;Ann Neurol,2003
3. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6;Zühlke;Eur J Hum Genet,2003
4. The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27;Imbert;Genomics,1994
5. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein;Nakamura;Hum Mol Genet,2001
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