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A Novel Mutation Substituting Tryptophan with Arginine in the Carboxyl-Terminal, Noncollagenous Domain of Collagen X in a Case of Schmid Metaphyseal Chondrodysplasia

โœ 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