Article
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
The Journal of biological chemistry - 20 Feb 1998
Weis M A, Wilkin D J, Kim H J, Wilcox W R, Lachman R S, Rimoin D L, Cohn D H, Eyre D R
Abstract excerpt
Type II collagen mutations have been identified in a phenotypic continuum of chondrodysplasias that range widely in clinical severity. They include achondrogenesis type II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest dysplasia, and Stickler syndrome. We report here results that define the underlying genetic defect and consequent altered structure of...
Topics
- Amino Acid Sequence
- Cartilage
- Chromatography, High Pressure Liquid
- Chromatography, Ion Exchange
- Collagen
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Genes, Dominant
- Humans
- Infant, Newborn
- Microscopy, Electron
- Molecular Sequence Data
- Mutation