Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00214187.pdf
Reference19 articles.
1. Apte SS, Olsen BR (1993) Characterization of the mouse type X collagen gene. Matrix 13:165?179
2. Brass A, Kadler KE, Thomas JT, Grant ME, Boot-Hanford RP (1992) The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions. FEBS Lett 303:126?128
3. Chan D, Cole WG, Rogers J, Bateman J (1994) A mutation in the conserved NC1 domain of type X collagen prevents in vitro multimer assembly resulting in a Schmid metaphyseal chondrodysplasia (abstract). Matrix 14:396
4. Dharmavaram RM, Elberson MA, Peng M, Kirson LA, Kelley TE, Jimenez SA (1994) Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. Hum Mol Genet 3:507?509
5. Jacenko O, LuValle PA, Olsen BR (1993) Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage to bone transition. Nature 365:56?61
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