Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

J Med Genet. 2004 Jan;41(1):e8. doi: 10.1136/jmg.2003.012245.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence / genetics
  • Animals
  • Asparagine / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Founder Effect*
  • Haplotypes / genetics*
  • Humans
  • Lysine / genetics*
  • Male
  • Mice
  • Molecular Sequence Data
  • Muscle Proteins / chemistry
  • Muscle Proteins / deficiency
  • Muscle Proteins / genetics*
  • Mutation, Missense / genetics*
  • Physical Chromosome Mapping
  • Rats

Substances

  • Muscle Proteins
  • peripheral membrane protein 43K
  • Asparagine
  • Lysine