Ikegawa, S

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