Article
Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.
Journal of medical genetics - 1 Mar 1991
Lynch J R, Ogilvie D, Priestley L, Baigrie C, Smith R, Farndon P, Sykes B
Abstract excerpt
Dominantly inherited osteogenesis imperfecta is consistently linked to the two loci encoding the alpha 1 and alpha 2 subunits of collagen 1, the predominant bone collagen. We have performed several prenatal diagnoses based on identification of the segregating allele at the concordant locus in chorionic villus samples both in families where the linkage can be independently shown and in those where it cannot....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.