Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Cohn
D H
DH
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Research Institute, Los Angeles, California 90048, USA.
Briggs
M D
MD
King
L M
LM
Rimoin
D L
DL
Wilcox
W R
WR
Lachman
R S
RS
Knowlton
R G
RG
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
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human