A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

Hum Mol Genet. 1995 Dec;4(12):2411-3. doi: 10.1093/hmg/4.12.2411.
No abstract available

MeSH terms

  • Ataxin-1
  • Ataxins
  • Base Sequence
  • Child
  • DNA
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Spinocerebellar Degenerations / genetics*
  • Trinucleotide Repeats*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • DNA