Article
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.
American journal of medical genetics - 22 Aug 1997
Zolezzi F, Valli M, Clementi M, Mammi I, Cetta G, Pignatti P F, Mottes M
Abstract excerpt
We have characterized a familial form of osteogenesis imperfecta (OI). Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiological signs of OI in the father and in the paternal grandmother of the proposita, who had never received a diagnosis of...
Topics
- Adult
- Alternative Splicing
- Base Sequence
- Collagen
- DNA
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Humans
- Infant
- Male
- Mutation
- Osteogenesis Imperfecta