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Enhancer in the first intron of the cartilage matrix protein gene

โœ Scribed by BOSZE, Z; KISS, I; SZABO, P; ALTANCHIMEG, R; BARTA, E; DEAK, F


Book ID
122735131
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
138 KB
Volume
14
Category
Article
ISSN
0309-1651

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The chondrodysplasias are characterised by the abnormal development of articulating joints and bone. Mutations in the COL2A1 and COL10A1 genes, which encode the cartilage collagens type II and type X, have been identified in a variety of inherited chondrodysplasias. However, both genes have also bee