A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 97, Issue 3, 2000, Pages 1212-1217

  Bönnemann, Carsten G ^a,c   Cox, Gerald F ^a   Shapiro, Frederic ^a   Wu, Jiann Jiu ^b   Feener, Chris A ^a   Thompson, Teryl G ^a   Anthony, Douglas C ^a   Eyre, David R ^b   Darras, Basil T ^a   Kunkel, Louis M ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLLAGEN TYPE 9; DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 20Q; CLINICAL FEATURE; CROSS LINKING; EPIPHYSIS DISEASE; GENE MUTATION; GENETIC LINKAGE; HUMAN; INTRON; MALE; MYOPATHY; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

CARTILAGE; CHILD; CHROMOSOMES, HUMAN, PAIR 20; COLLAGEN; EXONS; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0242605083     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.97.3.1212     Document Type: Article

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