Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. [electronic resource]
- Human mutation 1998
- S10-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1059-7794
10.1002/humu.1380110105 doi
Achondroplasia--genetics Amino Acid Sequence Base Sequence Cartilage Oligomeric Matrix Protein DNA--chemistry DNA Mutational Analysis DNA Primers Extracellular Matrix Proteins--genetics Family Health Female Glycoproteins--genetics Humans Male Matrilin Proteins Molecular Sequence Data Mutation Osteochondrodysplasias--genetics Pedigree Point Mutation Polymerase Chain Reaction Sequence Deletion