Article
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.
Human genetics - 1 Jun 1994
Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F, Constantinou-Deltas C D, Cetta G, Pignatti P F
Abstract excerpt
Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint laxity. Analysis of collagenous proteins from the proband's fibroblasts sh...
Topics
- Base Sequence
- Cells, Cultured
- Child
- DNA
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Pedigree
- Procollagen
- RNA Splicing
- RNA, Messenger