Article
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
Genetics and molecular research : GMR - 24 May 2011
Cao L H, Wang L B, Wang S S, Ma H W, Ji C Y, Luo Y
Abstract excerpt
Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked for mutations in the COMP gene in three sporadic Chinese pseudoachondroplasia patients and identified two novel mutations, c.1189G>T...
Topics
- Achondroplasia
- Base Sequence
- Calcium
- Cartilage Oligomeric Matrix Protein
- DNA Primers
- Extracellular Matrix Proteins
- Glycoproteins
- Humans
- Matrilin Proteins
- Mutation