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Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the NC1 domain of type X collagen

โœ Scribed by McIntosh, Iain; Abbott, Margaret H.; Francomano, Clain A.


Book ID
123351837
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
97 KB
Volume
14
Category
Article
ISSN
0945-053X

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๐Ÿ“œ SIMILAR VOLUMES


Concentration of mutations causing schmi
โœ Iain McIntosh; Margaret H. Abbott; Clair A. Francomano ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 579 KB

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

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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