Article
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
American journal of medical genetics - 28 Dec 1998
Deere M, Sanford T, Ferguson H L, Daniels K, Hecht J T
Abstract excerpt
Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in CO...
Topics
- Achondroplasia
- Amino Acid Sequence
- Calcium-Binding Proteins
- Cartilage Oligomeric Matrix Protein
- Dwarfism
- Extracellular Matrix Proteins
- Glycoproteins
- Humans
- Matrilin Proteins
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Point Mutation
- Transcription, Genetic