Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype

Hum Mutat. 1998:Suppl 1:S198-200. doi: 10.1002/humu.1380110164.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Arginine
  • Base Sequence
  • Cysteine
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Male
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / pathology
  • Microfilament Proteins / genetics*
  • Pedigree
  • Phenotype
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
  • DNA
  • Arginine
  • Cysteine