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Dideoxyfingerprinting (ddF) Analysis of the Type X Collagen Gene (COL10A1) and Identification of a Novel Mutation (S671P) in a Kindred with Schmid Metaphyseal Chondrodysplasia

โœ Scribed by Constantine A. Stratakis; Zsolt Orban; A.Lee Burns; Alessandra Vottero; Constantine S. Mitsiades; Stephen J. Marx; Val Abbassi; George P. Chrousos


Book ID
112238159
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
617 KB
Volume
59
Category
Article
ISSN
1077-3150

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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