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Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

✍ Scribed by Hae-Ryong Song; Kwang-Soo Lee; Qi-Wei Li; Soo Kyung Koo; Sung-Chul Jung

Publisher: Nature Publishing Group
Year: 2003
Tongue: English
Weight: 289 KB
Volume: 48
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-003-0013-7

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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