Mutations in Human Procollagen Genes.
- 1 February 1990
- journal article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 580 (1 Structur) , 330-339
- https://doi.org/10.1111/j.1749-6632.1990.tb17942.x
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- Effects of Mutations that Change Primary Structure of Collagen on the Self-Assembly of the Protein into FibrilsPublished by Springer Nature ,1989
- Osteogenesis Imperfecta: The Molecular Basis of Clinical HeterogeneityaAnnals of the New York Academy of Sciences, 1988
- Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.Proceedings of the National Academy of Sciences, 1988
- Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.Journal of Biological Chemistry, 1988
- Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen geneNature, 1988
- OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENESThe Lancet, 1986
- Heritable Diseases of CollagenNew England Journal of Medicine, 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