Abnormality of type IX collagen in a patient with diastrophic dysplasia.

doi:10.1002/ajmg.1320490411

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Article

Abnormality of type IX collagen in a patient with diastrophic dysplasia.

American journal of medical genetics - 15 Feb 1994

Diab M, Wu J J, Shapiro F, Eyre D

Abstract excerpt

There is growing evidence that a spectrum of chondrodysplasias are caused by mutations in the gene coding for type II collagen. The basic molecular defect in diastrophic dysplasia has not been defined, but it appears not to be in collagen type II. Cartilage contains other tissue-specific collagen...

Topics

Amino Acid Sequence
Blotting, Western
Cartilage
Collagen
Electrophoresis, Polyacrylamide Gel
Female
Humans
Ilium
Infant
Microscopy, Electron
Molecular Sequence Data
Mutation
Osteochondrodysplasias

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