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...

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Detalles Bibliográficos
Autores principales: Zühlke, Christine, Dalski, Andreas, Schwinger, Eberhard, Finckh, Ulrich
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1177950/
https://www.ncbi.nlm.nih.gov/pubmed/15989694
http://dx.doi.org/10.1186/1471-2350-6-27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1177950/
https://www.ncbi.nlm.nih.gov/pubmed/15989694
http://dx.doi.org/10.1186/1471-2350-6-27

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