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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Detalles Bibliográficos
Main Authors: Tsipouras, P, Schwartz, R C, Goldberg, J D, Berkowitz, R L, Ramirez, F
Formato: Artigo
Idioma:Inglês
Publicado: 1987
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050147/
https://ncbi.nlm.nih.gov/pubmed/2886666
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