A mutation in the conserved NC1 domain of type X collagen prevents in vitro multimer assembly resulting in a Schmid-type metaphyseal chondrodysplasia
โ Scribed by Chan, Danny; Cole, William G.; Rogers, John; Bateman, John F.
- Book ID
- 121947703
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 207 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0945-053X
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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