Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone fragility. Most cases of severe OI result from mutations in the coding region of the COL1A1 or COL1A2 genes yielding an abnormal collagen alpha chain. In contrast, many patients with mild OI show evidence of...
Zapisane w:
| Wydane w: | J Clin Invest |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
1996
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507150/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8613526/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118495 |
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