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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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| Gepubliceerd in: | Proc Natl Acad Sci U S A |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
National Academy of Sciences
1972
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| Onderwerpen: | |
| Online toegang: | 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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