Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia

Matrix Biology

Volumn 19, Issue 2, 2000, Pages 121-128

  Spayde, Erik C ^a   Joshi, Ajeya P ^a   Wilcox, William R ^b   Briggs, Michael ^c   Cohn, Daniel H ^d   Olsen, Bjorn R ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b Steven Spielberg Pediatric Research Center   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Collagen IX; Exon skipping; Multiple epiphyseal dysplasia; Mutation; Osteoarthritis

Indexed keywords

ARTICLE; CARTILAGE CELL; CARTILAGE MATRIX; DYSPLASIA; ELECTRON MICROSCOPY; EPIPHYSIS DISEASE; EXON; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; PRIORITY JOURNAL;

ALLELES; ALTERNATIVE SPLICING; CARTILAGE, ARTICULAR; COLLAGEN; COLLAGEN TYPE IX; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEQUENCE DELETION;

GENETTA;

EID: 0034192867     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(00)00055-X     Document Type: Article

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