Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. [electronic resource]
- Human genetics Dec 1998
- 633-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/s004390050883 doi
Achondroplasia--genetics Cartilage Oligomeric Matrix Protein Extracellular Matrix Proteins--genetics Genotype Glycoproteins--genetics Humans Matrilin Proteins Mutation Osteochondrodysplasias--genetics Phenotype Point Mutation Polymerase Chain Reaction Sequence Analysis, DNA Sequence Deletion