title: Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
authors.affiliation: Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Research Institute, Los Angeles, California 90048, USA.
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: M D
authors.initials: MD
authors.lastname: Briggs
authors.forename: L M
authors.initials: LM
authors.lastname: King
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: R G
authors.initials: RG
authors.lastname: Knowlton
mesh_terms: D000595:Amino Acid Sequence; D002356:Cartilage / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics; D006023:Glycoproteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D064235:Matrilin Proteins; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human