Article
Dominant mutations in familial lethal and severe osteogenesis imperfecta.
Human genetics - 1 Jul 1991
Cohen-Solal L, Bonaventure J, Maroteaux P
Abstract excerpt
Four families presenting with familial osteogenesis imperfecta (OI) have been studied: 2 with the lethal type II and 2 with the severe type III form. Fibroblasts of the patients, all issue from non-consanguineous parents, produced normal and abnormal alpha(I) chains. These heterozygous mutations differentiate the recurrent forms from homozygous mutations characteristic of autosomal recessive forms. Although the...
Topics
- Abortion, Induced
- Adult
- Cells, Cultured
- Collagen
- Electrophoresis, Polyacrylamide Gel
- Female
- Genes, Dominant
- Genetic Counseling
- Gestational Age
- Humans
- Male
- Mutation