✦ LIBER ✦

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

✍ Scribed by Hecht, Jacqueline T.; Nelson, Laura D.; Crowder, Eric; Wang, Yang; Elder, Frederick F.B.; Harrison, Wilbur R.; Francomano, Clair A.; Prange, Christa K.; Lennon, Gregory G.; Deere, Michelle

Book ID: 109916473
Publisher: Nature Publishing Group
Year: 1995
Tongue: English
Weight: 577 KB
Volume: 10
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0795-325

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of twelve mutations in ca

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia

✍ Deere, Michelle; Sanford, Tiffany; Ferguson, Heather L.; Daniels, Karla; Hecht, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

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

Novel mutation in exon 18 of the cartila

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia

✍ Mabuchi, Akihiko ;Haga, Nobuhiko ;Ikeda, Toshiyuki ;Manabe, Noriyo ;Ohashi, Hiro 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB

Mutations in the Cartilage Oligomeric Ma

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

✍ Daniel H. Cohn; Michael D. Briggs; Lily M. King; David L. Rimoin; William R. Wil 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 727 KB

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