Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation

Rev Esp Cardiol (Engl Ed). 2012 Apr;65(4):380-1. doi: 10.1016/j.recesp.2011.05.027. Epub 2011 Aug 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aorta / abnormalities
  • Codon, Nonsense
  • DNA / genetics
  • Exons / genetics
  • Family
  • Female
  • Fibrillin-1
  • Fibrillins
  • Genetic Counseling
  • Heterozygote
  • Humans
  • Introns / genetics
  • Male
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / pathology*
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Mutation / physiology
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics

Substances

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