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January 22, 1981New England Journal of Medicine

Deficiency of Galactosylhydroxylysyl Glucosyltransferase, an Enzyme of Collagen Synthesis, in a Family with Dominant Epidermolysis Bullosa Simplex

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Authors

ESEeva‐Riitta SavolainenMKMatti KeroTPTaina Pihlajaniemi

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Cite This Study

Savolainen et al. (1981) studied this question.

synapsesocial.com/papers/6a7eae2be7861671be8ec7c5https://doi.org/10.1056/nejm198101223040403
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Intracellular Enzymes of Collagen Biosynthesis in 3T6 Fibroblasts and Chick‐Embryo Tendon and Cartilage Cells1979 · 19 citations
  2. 2Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome1973 · 258 citations
  3. 3Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture.1978 · 120 citations