Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method

Clin Genet. 2002 Jan;61(1):71-3. doi: 10.1034/j.1399-0004.2002.10114.x.
No abstract available

Publication types

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

MeSH terms

  • Cytoskeletal Proteins
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Polymorphism, Restriction Fragment Length*
  • Proteins / genetics*
  • Pyrin

Substances

  • Cytoskeletal Proteins
  • MEFV protein, human
  • Proteins
  • Pyrin