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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...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Krane, S. M., Pinnell, S. R., Erbe, R. W.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1972
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC389670/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4342967/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.69.10.2899
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