Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

J Med Genet. 2002 Aug;39(8):589-93. doi: 10.1136/jmg.39.8.589.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromatography, High Pressure Liquid / methods
  • DNA Mutational Analysis / methods
  • Electrophoresis, Polyacrylamide Gel / methods
  • Fibrillin-1
  • Fibrillins
  • Gene Amplification / genetics
  • Heteroduplex Analysis / methods
  • Humans
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Nucleic Acid Conformation
  • Nucleic Acid Denaturation / genetics
  • Phenotype

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins