Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic

J Neurol. 2008 Apr;255(4):612-3. doi: 10.1007/s00415-008-0771-4. Epub 2008 Feb 25.
No abstract available

Publication types

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

MeSH terms

  • Alleles*
  • Amino Acid Substitution / genetics
  • Asian People / genetics
  • Ataxia / genetics*
  • Brain / metabolism
  • Brain / physiopathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16 / genetics*
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Linkage / genetics*
  • Genetic Testing
  • Germany
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Japan
  • Male
  • Mutation / genetics
  • Spectrin / genetics
  • Spinocerebellar Ataxias / genetics*
  • White People / genetics

Substances

  • Guanine Nucleotide Exchange Factors
  • PLEKHG4 protein, human
  • Spectrin