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1. Type III collagen mutations in Ehlers Danlos Syndrome type IV and other related disorders.

Author

Pope, F. M., Nicholls, A. C., Narcisi, P., Temple, A., Chia, Y., Fryer, P., De Paepe, A., De Groote, W. P., McEwan, J. R., Compston, D. A., Oorthuys, H., Davies, J., and Dinwoodie, D. L.

Subjects
CONNECTIVE tissues, COLLAGEN, TISSUES, GENETIC mutation, EXTRACELLULAR matrix proteins, GENES
Abstract

Type III collagen is an essential component of many connective tissues. It is a member of the interstitial collagen gene family which also includes collagen types I, II, III and V. Deficiency or mutations of type III collagen produce a variety of rare but serious diseases, which often present with dramatic vascular complications and premature death. Detailed protein and gene analysis is now feasible and the way is open for prenatal diagnosis and prevention of these diverse and dangerous diseases.

Published
1988
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Author

Vercauteren, Michel E., De Groote, William F., Vercauteren, M E, and De Groote, W F

Published
1980

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