Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family

American Journal of Medical Genetics

Volumn 68, Issue 4, 1997, Pages 396-400

  Ballo, Robea ^a   Briggs, Michael D ^b   Cohn, Daniel H ^b   Knowlton, Robert G ^c   Beighton, Peter H ^a   Ramesar, Rajkumar S ^a,d  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

cartilage oligomeric matrix protein (COMP); epiphyseal dysplasia; genetic; osteochondrodysplasia

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN; CELL PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE DYSPLASIA; CARTILAGE MATRIX; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HETEROZYGOSITY; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0031019675     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970211)68:4<396::AID-AJMG4>3.0.CO;2-K     Document Type: Article

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