Article
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
Human molecular genetics - 1 Jan 1999
Délot E, King L M, Briggs M D, Wilcox W R, Cohn D H
Abstract excerpt
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are two human autosomal dominant skeletal dysplasias characterized by variable short stature, joint laxity and early-onset degenerative joint disease. Both disorders can result from mut-ations in the gene for cartilage oligomeri...
Topics
- Achondroplasia
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cartilage
- Cartilage Oligomeric Matrix Protein
- Cells, Cultured
- DNA Primers
- DNA, Complementary
- Extracellular Matrix Proteins
- Female
- Glycoproteins
- Humans
- Male
- Matrilin Proteins
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias