Two novel single-base-pair substitutions adjacent to the CAG repeat in the huntington disease gene (IT15): implications for diagnostic testing

Am J Hum Genet. 1999 Jan;64(1):323-6. doi: 10.1086/302209.
No abstract available

Publication types

  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • Genetic Testing
  • Humans
  • Huntingtin Protein
  • Huntington Disease / diagnosis
  • Huntington Disease / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Proteins / genetics*
  • Trinucleotide Repeats*

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Proteins

Associated data

  • GENBANK/L12392