Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations
โ Scribed by Mabuchi, Akihiko ;Momohara, Shigeki ;Ohashi, Hirofumi ;Takatori, Yoshio ;Haga, Nobuhiko ;Nishimura, Gen ;Ikegawa, Shiro
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 63 KB
- Volume
- 129A
- Category
- Article
- ISSN
- 0148-7299
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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
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