Identification of Five Novel Mutations in Cartilage Oligomeric Matrix Protein Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Loughlin, John ^a   Ireven, Catherine ^a   Mustafa, Zehra ^a   Briggs, Michael D ^d,f   Carr, Andrew ^b   Lynch, Sally Ann ^c   Knowlton, Robert G ^e   Cohn, Daniel H ^d   Sykes, Bryan ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b Nutfield Orthopaedic Hospital   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARTILAGE MATRIX PROTEIN; DNA; GLYCOPROTEIN; PRIMER DNA; SCLEROPROTEIN; ASPARTIC ACID; CALMODULIN; CARTILAGE OLIGOMERIC MATRIX PROTEIN; OLIGOMER; UNCLASSIFIED DRUG;

ACHONDROPLASIA; AMINO ACID SEQUENCE; ARTICLE; CHEMISTRY; CHONDRODYSPLASIA; FAMILY HEALTH; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; BONE DYSPLASIA; CARTILAGE CELL; DELETION MUTANT; DNA SEQUENCE; EPIPHYSIS DISEASE; EXON; GENE MUTATION; HUMAN CELL; MAJOR CLINICAL STUDY; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ACHONDROPLASIA; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; FEMALE; GLYCOPROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0031963913     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110105     Document Type: Article

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