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Homozygous osteogenesis imperfecta unlinked to collagen I genes
K Aitchison1, D Ogilvie, M Honeyman
1University of Oxford, Nuffield Department of Pathology, John Radcliffe Hospital, UK.
Human Genetics
|March 1, 1988
Abstract:
In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.