Article
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
American journal of human genetics - 1 Jul 1990
Kontusaari S, Tromp G, Kuivaniemi H, Ladda R L, Prockop D J
Abstract excerpt
Inheritance of a single base mutation in the type III procollagen gene (COL3A1) was studied in a family with aortic aneurysms and easy bruisability. The mutation was a substitution of A for G+ 1 of intron 20 of the gene and caused aberrant splicing of RNA transcribed from the mutated allele. The...
Topics
- Adult
- Alleles
- Aortic Aneurysm
- DNA
- Ehlers-Danlos Syndrome
- Female
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Procollagen
- RNA Splicing