✦ LIBER ✦

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

✍ Scribed by Warman, Matthew L.; Abbott, Margaret; Apte, Suneel S.; Hefferon, Tim; McIntosh, Iain; Cohn, Daniel H.; Hecht, Jacqueline T.; Olsen, Bjorn R.; Francomano, Clair A.

Book ID: 109916903
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 439 KB
Volume: 5
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0993-79

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel type X collagen gene mutation (G

A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia

✍ Y. Matsui; N. Yasui; H. Kawabata; K. Ozono; K. Nakata; T. Mizushima; N. Tsumaki; 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 596 KB

Concentration of mutations causing Schmi

Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the NC1 domain of type X collagen

✍ McIntosh, Iain; Abbott, Margaret H.; Francomano, Clain A. 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 97 KB

Concentration of mutations causing schmi

Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

✍ Iain McIntosh; Margaret H. Abbott; Clair A. Francomano 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 579 KB

Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the result of mutations in the type X collagen gene, COLlOAl. A further three mutations have been identified, including two nonsense mutations (YZ68X, W651X) and a frameshift mutation (1856delCC). Each of the 10 SMCD mutation

Schmid-type metaphyseal chondrodysplasia

Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novelCOL10A1nonsense mutation

✍ Julia V. Woelfle; R. E. Brenner; B. Zabel; H. Reichel; M. Nelitz 📂 Article 📅 2011 🏛 Springer Japan 🌐 English ⚖ 347 KB

A recurrent 1992delCT mutation of the ty

A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia

✍ Yoshito Matsui; Tomoatsu Kimura; Noriyuki Tsumaki; Natsuo Yasui; Takahiro Ochi 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 283 KB

Identification of a mutation in the type

Identification of a mutation in the type X collagen gene (COL10A1) in a family with Schmid metaphyseal chondrodysplasia

✍ Dharmavaram, Rita M.; Elberson, Margaret A.; Peng, Minzhong; Kirson, Lisa A.; Ke 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 97 KB