Insight into Schmid Metaphyseal Chondrodysplasia from the Crystal Structure of the Collagen X NC1 Domain Trimer
โ Scribed by Oren Bogin; Marc Kvansakul; Eran Rom; Josef Singer; Avner Yayon; Erhard Hohenester
- Book ID
- 114329029
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 419 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0969-2126
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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 metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones. Several mutations of the type X collagen gene (COL10A1) have