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Lysyl-Protocollagen Hydroxylase Deficiency in Fibroblasts from Siblings with Hydroxylysine-Deficient Collagen

Cell culture studies were performed on members of a family in which two sisters, ages 9 and 12, have a similar disorder characterized clinically by severe scoliosis, joint laxity and recurrent dislocations, hyperextensible skin, and thin scars. The skin collagen from the sisters was markedly deficie...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Krane, S. M., Pinnell, S. R., Erbe, R. W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1972
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC389670/
https://ncbi.nlm.nih.gov/pubmed/4342967
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