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Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln(49 )TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
BACKGROUND: 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. Observed pathogenic expansions ranged from 43 – 63 gl...
Gorde:
| Egile Nagusiak: | , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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BioMed Central
2005
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1177950/ https://ncbi.nlm.nih.gov/pubmed/15989694 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-27 |
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