Article
Mutations in collagen genes: causes of rare and some common diseases in humans.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Apr 1991
Kuivaniemi H, Tromp G, Prockop D J
Abstract excerpt
More than 70 mutations in the two structural genes for type I procollagen (COL1A1 and COL1A2) have been found in probands with osteogenesis imperfecta, a heritable disease of children characterized by fragility of bone and other tissues rich in type I collagen. The mutations include deletions, insertions, RNA splicing mutations, and single-base substitutions that convert a codon for glycine to a codon for an...
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