Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
โ Scribed by S. Ikegawa; Hirofumi Ohashi; Gen Nishimura; Kyoung Chang Kim; Akio Sannohe; Mamori Kimizuka; Yoshimitsu Fukushima; Toshiro Nagai; Yusuke Nakamura
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 187 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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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) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in COMP
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