A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Nature Genetics

Volumn 12, Issue 1, 1996, Pages 103-105

  Muragaki, Y ^a   Mariman, E C M ^a   Van Beersum, S E C ^a   Perala, M ^a   Van Mourik, J B A ^a   Warman, M L ^a   Olsen, B R ^a   Hamel, B C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 9; OLIGOMER; SCLEROPROTEIN;

ACHONDROPLASIA; ALPHA CHAIN; ARTICLE; CHONDRODYSPLASIA; CHROMOSOME 1; CHROMOSOME 19; CLINICAL ARTICLE; EPIPHYSIS DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL;

BASE SEQUENCE; CARTILAGE, ARTICULAR; CHROMOSOMES, HUMAN, PAIR 1; COLLAGEN; DNA PRIMERS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; RNA SPLICING;

EID: 0030069658     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0196-103     Document Type: Article

References (0)