Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients

Am J Hum Genet. 1997 Apr;60(4):993-6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age Distribution
  • Ataxin-1
  • Ataxin-3
  • Ataxins
  • Causality
  • Cerebral Cortex / chemistry*
  • Humans
  • Machado-Joseph Disease / genetics
  • Machado-Joseph Disease / mortality
  • Middle Aged
  • Mosaicism*
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Peptides / genetics*
  • Repressor Proteins
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / mortality
  • Trinucleotide Repeats*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • Repressor Proteins
  • polyglutamine
  • ATXN3 protein, human
  • Ataxin-3