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