Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.
Type I osteogenesis imperfecta (OI) is a dominantly inherited disease characterized clinically by bone fractures during childhood, blue sclerae, and frequent hearing loss accompanied by a decreased content of type I collagen in bone and skin. Cultured skin fibroblasts from three individuals affected...
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| 發表在: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
National Academy of Sciences
1982
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC346523/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6954526/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.79.12.3838 |
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