Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome

Am J Med Genet A. 2008 Dec 15;146A(24):3240-1. doi: 10.1002/ajmg.a.32586.
No abstract available

MeSH terms

  • Alleles
  • Collagen Diseases / genetics*
  • Collagen Type V / genetics*
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Humans
  • Male
  • Mutation / genetics*

Substances

  • Collagen Type V