Article
STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENESIS IMPERFECTA: A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES
1 Jun 1997
Abstract excerpt
We completed prenatal diagnostic studies from 129 pregnancies at risk for osteogenesis imperfecta (OI). Studies in 107 pregnancies were completed by analysis of collagen synthesized by cells cultured from chorionic villus biopsies and the remaining 22 used direct mutation identification or analysis of polymorphic restriction sites in the COL1A1 gene of type I collagen. The vast majority of studies (n = 113) were...
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