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.

Type X collagen is a homotrimer of alpha 1 (X) chains encoded by the COL10A1 gene. It is synthesised specifically and transiently by hypertrophic chondrocytes at sites of endochondral ossification. Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-term...

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Bibliographic Details
Main Authors: Wallis, G A, Rash, B, Sykes, B, Bonaventure, J, Maroteaux, P, Zabel, B, Wynne-Davies, R, Grant, M E, Boot-Handford, R P
Format: Artigo
Language:Inglês
Published: 1996
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050629/
https://ncbi.nlm.nih.gov/pubmed/8782043
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