Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

Geahča maid

• Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.
  Dahkki: Merritt, T, et al.
  Almmustuhtton: (2006)
• MULTIPLE EPIPHYSEAL DYSPLASIA AND THE CARTILAGE COLLAGEN GENE
  Dahkki: Wordsworth, B, et al.
  Almmustuhtton: (1986)
• Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
  Dahkki: Holden, P, et al.
  Almmustuhtton: (1999)
• Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
  Dahkki: Briggs, MD, et al.
  Almmustuhtton: (1994)
• Multiple epiphyseal dysplasia with contribution of two cases with a mutation in the COMP gene
  Dahkki: Milka Dikova, et al.
  Almmustuhtton: (2024-09-01)