A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita

Clin Chim Acta. 2007 Jul;382(1-2):148-50. doi: 10.1016/j.cca.2007.04.005. Epub 2007 Apr 14.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Collagen Type II / genetics*
  • Female
  • Femur Head / abnormalities*
  • Femur Neck / abnormalities*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • COL2A1 protein, human
  • Collagen Type II