Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

J Med Genet. 2004 Apr;41(4):e51. doi: 10.1136/jmg.2003.014803.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Amyloid / genetics*
  • Amyloid Neuropathies, Familial / genetics*
  • Europe
  • Founder Effect
  • Gene Frequency
  • Haplotypes
  • Humans
  • Japan
  • Microsatellite Repeats
  • Mutation, Missense*
  • Polymorphism, Single Nucleotide
  • Prealbumin / genetics*

Substances

  • Amyloid
  • Prealbumin
  • amyloid prealbumin