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Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novelCOL10A1nonsense mutation

✍ Scribed by Julia V. Woelfle; R. E. Brenner; B. Zabel; H. Reichel; M. Nelitz


Publisher
Springer Japan
Year
2011
Tongue
English
Weight
347 KB
Volume
16
Category
Article
ISSN
0949-2658

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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