Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

Hum Mol Genet. 1994 Feb;3(2):373-5. doi: 10.1093/hmg/3.2.373.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Epidermal Growth Factor / chemistry
  • Exons*
  • Female
  • Fibrillin-1
  • Fibrillins
  • Genes*
  • Humans
  • Male
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / chemistry
  • Microfilament Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymorphism, Genetic*
  • Protein Structure, Tertiary

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
  • Epidermal Growth Factor