Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome

Hum Mutat. 1997;9(4):359-62. doi: 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1.
No abstract available

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Exons / genetics*
  • Fibrillins
  • Genes / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mutation / genetics*
  • Polymerase Chain Reaction / methods

Substances

  • Fibrillins
  • Microfilament Proteins