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Editorial
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Volume 345:1203-1205 October 18, 2001 Number 16
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An Exception to the Rule

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 by Schalkwijk, J.
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In 1972, the first biochemical abnormality to be identified in a form of the Ehlers–Danlos syndrome, a deficiency of lysyl hydroxylase, a collagen-modifying enzyme, was described in the Journal.1 Many other forms of the syndrome have since been identified.2 Because affected patients frequently had disorganization of collagen fibrils, it was expected that mutations in collagen genes or the genes that encode collagen-modifying enzymes would account for most of these phenotypes. Thirty years ago, it was not too much to expect that the search for these mutations would be simple, since only a small number of collagen genes were recognized . . . [Full Text of this Article]

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