Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics

Clin Genet. 2006 Nov;70(5):415-7. doi: 10.1111/j.1399-0004.2006.00680.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Ataxin-7
  • Black People / genetics
  • Case-Control Studies
  • Female
  • Founder Effect
  • Gene Frequency
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Microsatellite Repeats
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • South Africa
  • Spinocerebellar Ataxias / diagnosis*
  • Spinocerebellar Ataxias / genetics*

Substances

  • ATXN7 protein, human
  • Ataxin-7
  • Nerve Tissue Proteins