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
โฆ LIBER โฆ
A Novel Mutation Substituting Tryptophan with Arginine in the Carboxyl-Terminal, Noncollagenous Domain of Collagen X in a Case of Schmid Metaphyseal Chondrodysplasia
โ Scribed by R.K. Pokharel; H. Alimsardjono; K. Uno; S. Fujii; R. Shiba; M. Matsuo
- Book ID
- 115577804
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 286 KB
- Volume
- 217
- Category
- Article
- ISSN
- 0006-291X
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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
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