Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 311-319

  Briggs, Michael D ^a,b,k   Mortier, Geert R ^d   Cole, William G ^e   King, Lily M ^a   Golik, Steven S ^a   Bonaventure, Jacky ^f   Nuytinck, Lieve ^d   De Paepe, Anne ^d   Leroy, Jules G ^d   Biesecker, Leslie ^g   Lipson, Mark ^h   Wilcox, William R ^a,b   Lachman, Ralph S ^c   Rimoin, David L ^a,b   Knowlton, Robert G ⁱ   Cohn, Daniel H ^a,b,j  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h KAISER PERMANENTE MEDICAL CENTER   (United States)

ⁱ THOMAS JEFFERSON UNIVERSITY   (United States)

^j CEDARS SINAI MEDICAL CENTER   (United States)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; BONE DISEASE; BONE DYSPLASIA; CARTILAGE; CLINICAL ARTICLE; DNA SEQUENCE; EPIPHYSIS DISEASE; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; OSTEOARTHRITIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 17344374325     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301713     Document Type: Article

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