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Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.
Autosomal dominant osteogenesis imperfecta is caused by mutations in the COL1A2 and COL1A1 genes of type I collagen. In a family with OI type IV genetically linked to the COL1A2 gene, we attempted prenatal diagnosis in a pregnancy at risk by genotyping the DNA of the fetus for a COL1A2 gene associat...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1987
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050147/ https://ncbi.nlm.nih.gov/pubmed/2886666 |
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