Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Author:

Wallis G A,Rash B,Sykes B,Bonaventure J,Maroteaux P,Zabel B,Wynne-Davies R,Grant M E,Boot-Handford R P

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. A short chain (pro)collagen from aged endochondral chondrocytes;Schmid, T.M.; Linsenmayer, T.F.;JfBiol Chem,1983

2. Isolation of bovine type X collagen and immunolocalisation in growth plate cartilage;Kirsch, T.; von der Mark, K.;Biochem _J,1990

3. The human collagen X gene;Thomas, J.T.; Cresswell, C.J.; Rash, B.;Biochem _J,1991

4. Genomic organisation and full-length cDNA sequence of human collagen X;Reichenberger, E.; Beier, F.; LuValle, P.; Olsen, B.R.; von der Mark, K.; Berling, W.;FEBS Lett,1992

5. Subtle structural alterations in the chains of type I procollagen produces osteogenesis imperfecta type II;Bonadio, J.; Byers, P.H.;Nature,1985

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