Article
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
The Journal of biological chemistry - 5 Oct 1990
Cole W G, Chiodo A A, Lamande S R, Janeczko R, Ramirez F, Dahl H H, Chan D, Bateman J F
Abstract excerpt
The dermis of a child with Ehlers-Danlos syndrome type IV (EDS-IV) contained about 11% of the normal amount of type III collagen and cultured dermal fibroblasts produced a reduced amount of type III procollagen which was secreted poorly. Type III collagen produced by these cells contained normal...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Cells, Cultured
- Child
- Collagen
- DNA Helicases
- Ehlers-Danlos Syndrome
- Exons
- Fibroblasts
- Humans
- Male
- Molecular Sequence Data
- Mutation