- Tytuł:
- Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
- Autorzy:
- Źródło:
- BMC medical genetics [BMC Med Genet] 2005 Jul 01; Vol. 6, pp. 27. Date of Electronic Publication: 2005 Jul 01.
- Typ publikacji:
- Comparative Study; Journal Article
- MeSH Terms:
-
Alleles*
Founder Effect*
Penetrance*
Glutamic Acid/*genetics
Haplotypes/*genetics
Spinocerebellar Ataxias/*genetics
TATA-Box Binding Protein/*genetics
Adult ; Adult Children ; Aged ; Female ; Gene Frequency/genetics ; Genotype ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Spinocerebellar Degenerations/genetics
Czasopismo naukowe