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

โœ Scribed by John Loughlin; Catherine Irven; Zehra Mustafa; Michael D. Briggs; Andrew Carr; Sally-Ann Lynch; Robert G. Knowlton; Daniel H. Cohn; Bryan Sykes


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
773 KB
Volume
11
Category
Article
ISSN
1059-7794

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## Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are allelic disorders caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP) . PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoart

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Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a m