Homozygous osteogenesis imperfecta unlinked to collagen I genes
- 1 March 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 78 (3) , 233-236
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.Keywords
This publication has 14 references indexed in Scilit:
- An RFLP close to the human collagen I gene COL1AINucleic Acids Research, 1987
- Prenatal diagnosis of osteogenesis imperfecta type IIIPrenatal Diagnosis, 1987
- OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENESThe Lancet, 1986
- Individual-specific ‘fingerprints’ of human DNANature, 1985
- Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.Journal of Medical Genetics, 1985
- Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanationHuman Genetics, 1985
- Prenatal diagnosis of a severe deforming type of osteogenesis imperfectaAmerican Journal of Medical Genetics, 1984
- Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.Journal of Clinical Investigation, 1983
- Altered Relation of Two Collagen Types in Osteogenesis ImperfectaNew England Journal of Medicine, 1977
- A Heritable Disorder of Connective TissueNew England Journal of Medicine, 1972