Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation

Journal of Biological Chemistry

Volumn 273, Issue 8, 1998, Pages 4761-4768

  Weis, Mary Ann ^a   Wilkin, Douglas J ^b,e   Kim, Hyon J ^b,d   Wilcox, William R ^b,c   Lachman, Ralph S ^b,c   Rimoin, David L ^b,c   Cohn, Daniel H ^b,c   Eyre, David R ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Ajou University School of Medicine   (South Korea)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

ARTICLE; CARTILAGE MATRIX; CASE REPORT; CHONDRODYSPLASIA; ELECTROPHORESIS; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; NEWBORN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE;

AMINO ACID SEQUENCE; CARTILAGE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, ION EXCHANGE; COLLAGEN; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; GENES, DOMINANT; HUMANS; INFANT, NEWBORN; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEPTIDE MAPPING;

EID: 0032548931     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.273.8.4761     Document Type: Article

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