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• W2065853197 abstract "The Ehlers-Danlos syndrome type VI is an inherited disorder of collagen metabolism characterized by a defective lysyl hydroxylase. The resulting lack of hydroxylysine has been found in several connective tissues, all of which show varying degrees of clinical symptoms. In the present study, collagen was isolated from different connective tissues and the degree of hydroxylation of lysyl residues was determined. Subsequently, collagen types I, II, III, IV, and V have been prepared from a number of tissues. Insufficient hydroxylation of lysyl residues was found in type I and type III collagen, whereas types II, IV, and V showed normal amounts of hydroxylysine. The expression of the defect, even for type I and type III collagen, varied widely from one tissue to another. A complete lack of hydroxylysine was observed in skin, while it was less pronounced in tissues such as bone, tendon, lung, or kidney. The data suggest the presence of several isoenzymes having varying affinities to the different collagen types." @default.
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• W2065853197 date "1984-09-01" @default.
• W2065853197 modified "2023-09-26" @default.
• W2065853197 title "Ehlers-Danlos Syndrome Type VI: Collagen Type Specificity of Defective Lysyl Hydroxylation in Various Tissues" @default.
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• W2065853197 doi "https://doi.org/10.1111/1523-1747.ep12263502" @default.
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