Article
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
Human molecular genetics - 1 Feb 1994
McIntosh I, Abbott M H, Warman M L, Olsen B R, Francomano C A
Abstract excerpt
Type X collagen is a short chain collagen expressed in hypertrophic chondrocytes during bone growth. A 13bp deletion has been shown to segregate with Schmid metaphyseal chondrodysplasia, an autosomal dominant disorder of the osseous skeleton, in a large Mormon kindred. To increase our understanding of the role type X collagen plays in development we have used SSCP analysis to identify three additional mutations...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Collagen
- Consanguinity
- Female
- Frameshift Mutation
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mosaicism