A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia

Human Genetics

Volumn 118, Issue 2, 2005, Pages 175-178

  Miyamoto, Yoshinari ^a   Nakashima, Eiji ^a   Hiraoka, Hisatada ^b   Ohashi, Hirofumi ^c   Ikegawa, Shiro ^a  

^a RIKEN   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; COLLAGEN TYPE 2A1; GENOMIC DNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; COLLAGEN DISEASE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; INTRON; KNEE PAIN; MYOPIA; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; PHENOTYPE; PRIORITY JOURNAL; SYNDROME OSMED;

ADULT; AMINO ACID SEQUENCE; COLLAGEN TYPE II; COLLAGEN TYPE XI; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HUMANS; OSTEOARTHRITIS; OSTEOCHONDRODYSPLASIAS; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 27944496484     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0058-0     Document Type: Article

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