Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome

Hum Genet. 2007 Dec;122(5):548.
No abstract available

MeSH terms

  • Fibrillin-1
  • Fibrillins
  • Humans
  • Introns
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mutation, Missense*
  • RNA Splicing / genetics

Substances

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