Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene

Clin Chim Acta. 2015 Jan 15:439:58-60. doi: 10.1016/j.cca.2014.09.034. Epub 2014 Oct 7.
No abstract available

Publication types

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

MeSH terms

  • Asian People / genetics*
  • China
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Male
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Sequence Analysis, DNA / methods*
  • Time Factors

Substances

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