Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

Hum Mutat. 1994;3(2):159-62. doi: 10.1002/humu.1380030212.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis / methods
  • DNA, Complementary / genetics
  • Female
  • Fibrillin-1
  • Fibrillins
  • Fluorescent Dyes
  • Genes*
  • Humans
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • DNA, Complementary
  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Fluorescent Dyes
  • Microfilament Proteins