Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2010.42. Epub 2010 Apr 7.
No abstract available

Publication types

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

MeSH terms

  • Chromatography, High Pressure Liquid
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics
  • Microfilament Proteins / genetics*
  • Phenotype
  • Sensitivity and Specificity

Substances

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

Supplementary concepts

  • Marfanoid hypermobility syndrome