Loughlin, J

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