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

Míreanna comhchosúla

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