I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

Hum Mutat. 2002 Aug;20(2):148-50. doi: 10.1002/humu.10103.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics*
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / pathology
  • Female
  • Genetic Carrier Screening
  • Genetic Variation / genetics*
  • Humans
  • Isoleucine / genetics
  • Male
  • Mutation / genetics*
  • Nuclear Family
  • Pedigree
  • Polymorphism, Genetic / genetics*
  • Spain
  • Threonine / genetics

Substances

  • Isoleucine
  • Threonine