Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

Nat Genet. 1997 Aug;16(4):328-9. doi: 10.1038/ng0897-328.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing
  • Base Sequence
  • DNA
  • DNA Mutational Analysis
  • Exons*
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Introns
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*

Substances

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