Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln<sub>49 </sub>TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
<p>Abstract</p> <p>Background</p> <p>Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main transcription factor...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2005-07-01
|
| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/6/27 |