✦ LIBER ✦

Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia

✍ Scribed by Daniel H. Cohn; Michael D. Briggs; Lily M. King; David L. Rimoin; William R. Wilcox; Ralph S. Lachman; Robert G. Knowlton

Book ID: 119873781
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 727 KB
Volume: 785
Category: Article
ISSN: 0890-6564
DOI: 10.1111/j.1749-6632.1996.tb56258.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel and recurrent COMP (cartilage olig

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

✍ S. Ikegawa; Hirofumi Ohashi; Gen Nishimura; Kyoung Chang Kim; Akio Sannohe; Mamo 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 187 KB

Identification of cartilage oligomeric m

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

✍ Hae-Ryong Song; Kwang-Soo Lee; Qi-Wei Li; Soo Kyung Koo; Sung-Chul Jung 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 289 KB

Pseudoachondroplasia and multiple epiphy

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

✍ Briggs, M.D.; Hoffman, S.M.G.; King, L.M.; Olsen, A.S.; Mohrenweiser, H.; Leroy, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 853 KB

Identification of five novel mutations i

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

✍ John Loughlin; Catherine Irven; Zehra Mustafa; Michael D. Briggs; Andrew Carr; S 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 773 KB

Diverse Mutations in the Gene for Cartil

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

✍ Michael D. Briggs; Geert R. Mortier; William G. Cole; Lily M. King; Steven S. Go 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 679 KB

Identification of nine novel mutations i

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

✍ Deere, Michelle; Sanford, Tiffany; Francomano, Clair A.; Daniels, Karla; Hecht, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

## 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