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Collagen genes: mutations affecting collagen structure and expression.

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Division of Orthopaedics, Hospital for Sick Children, Toronto, Ontario, Canada.


It is to be expected that more collagen genes will be identified and that additional heritable connective tissue diseases will be shown to arise from collagen mutations. Further progress will be fostered by the coordinated study of naturally occurring and induced heritable connective tissues diseases. In some instances, human mutations will be studied in more detail using transgenic mice, while in others, transgenic studies will be used to determine the type of human phenotype that is likely to result from mutations of a given collagen gene. Further studies of transcriptional regulation of the collagen genes will provide the prospect for therapeutic control of expression of specific collagen genes in patients with genetically determined collagen disorders as well as in a wide range of common human diseases in which abnormal formation of the connective tissues is a feature.

[Indexed for MEDLINE]

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