Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred

Hum Mol Genet. 1994 Jun;3(6):1013-4. doi: 10.1093/hmg/3.6.1013.
No abstract available

Publication types

  • Clinical Trial
  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Cysteine*
  • DNA Primers
  • Epidermal Growth Factor / metabolism
  • Fibrillins
  • Genetic Variation*
  • Humans
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / metabolism
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Molecular Sequence Data
  • Polymerase Chain Reaction

Substances

  • DNA Primers
  • Fibrillins
  • Microfilament Proteins
  • Epidermal Growth Factor
  • Cysteine