Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.
To understand the nature of the mutation in type I collagen genes in cells from an infant with the perinatal lethal form of osteogenesis imperfecta (type II), we cloned and sequenced almost 2 kilobases of a normal alpha 1(I) collagen gene and the corresponding region of a mutant alpha 1(I) gene from...
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| Pubblicato in: | Proc Natl Acad Sci U S A |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
National Academy of Sciences
1985
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC397668/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3857621/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.82.9.2870 |
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