Article
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
The Journal of biological chemistry - 15 Mar 1991
Vissing H, D'Alessio M, Lee B, Ramirez F, Byers P H, Steinmann B, Superti-Furga A
Abstract excerpt
We have characterized a deletion of approximately 9 kilobases which spans from intron 33 to exon 48 of one pro-alpha 1 (III) collagen allele in a patient with Ehlers-Danlos syndrome type IV. The mutation results in the production of an in-frame species of mRNA which lacks the sequences correspond...
Topics
- Chromosome Deletion
- Collagen
- DNA
- Ehlers-Danlos Syndrome
- Electrophoresis, Gel, Two-Dimensional
- Exons
- Humans
- Mutation
- Pepsin A
- Polymerase Chain Reaction
- Procollagen
- RNA, Messenger
- Restriction Mapping