Article
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
Journal of medical genetics - 1 Jun 1992
Nuytinck L, Narcisi P, Nicholls A, Renard J P, Pope F M, De Paepe A
Abstract excerpt
The clinical and biochemical observations in a patient with a mild form of Ehlers-Danlos syndrome (EDS) type IV are described. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. SDS-polyacrylamide gel electrophoresis of collagens produced by cells obtained f...
Topics
- Cells, Cultured
- Collagen
- Connective Tissue
- Cyanogen Bromide
- Ehlers-Danlos Syndrome
- Female
- Fibroblasts
- Hot Temperature
- Humans
- Middle Aged
- Mutation
- Peptide Mapping
- Precipitin Tests
- Procollagen
- RNA, Messenger