A new missense mutation of fibrillin in a patient with Marfan syndrome

J Med Genet. 1994 Apr;31(4):338-9. doi: 10.1136/jmg.31.4.338.

Abstract

A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Female
  • Fibrillins
  • Humans
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*

Substances

  • Fibrillins
  • Microfilament Proteins