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

Eitemau Tebyg

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