Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
- 1 May 2001
- journal article
- Published by Elsevier in Archives of Oral Biology
- Vol. 46 (5) , 459-470
- https://doi.org/10.1016/s0003-9969(00)00130-8
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Discrimination of morphological findings in dentine from osteogenesis imperfecta patients using combinations of polarized light microscopy, microradiograhpy and scanning electron microscopyInternational Journal of Paediatric Dentistry, 1999
- Collagen and Bone StrengthJournal of Bone and Mineral Research, 1999
- The 1993–94 Généthon human genetic linkage mapNature Genetics, 1994
- Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfectaHuman Mutation, 1993
- Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.Journal of Medical Genetics, 1991
- Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfectaAmerican Journal of Medical Genetics, 1991
- Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.Journal of Clinical Investigation, 1986
- Linkage between dentinogenesis imperfecta and GcAnnals of Human Genetics, 1982
- Osteogenesis ImperfectaClinical Orthopaedics and Related Research, 1981
- Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?Journal of Medical Genetics, 1981