The phenotypic spectrum of COL2A1 mutations

Human Mutation

Volumn 26, Issue 1, 2005, Pages 36-43

  Nishimura, Gen ^a   Haga, Nobuhiko ^b   Kitoh, Hiroshi ^c   Tanaka, Yoko ^d   Sonoda, Toru ^e   Kitamura, Miho ^f   Shirahama, Shuya ^g   Itoh, Taichi ^g   Nakashima, Eiji ^h   Ohashi, Hirofumi ⁱ   Ikegawa, Shiro ^h  

^a TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^b SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^c NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d TOKYO DENTAL COLLEGE   (Japan)

^e UNIVERSITY OF MIYAZAKI   (Japan)

^f Clark Hospital   (Japan)

^g SRL INC   (Japan)

^h RIKEN   (Japan)

ⁱ SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

COL2A1; Collagenopathy; Spondyloepiphyseal dysplasia; Type II collagen

Indexed keywords

COLLAGEN TYPE 2; GLYCINE; PROPEPTIDE C; PROTEIN PRECURSOR; SERINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BONE GROWTH; COL2A1 GENE; COLLAGEN DISEASE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA SPLICING; EAR NOSE THROAT DISEASE; EYE MALFORMATION; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KNIEST DYSPLASIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; STICKLER DYSPLASIA TYPE 1;

ABNORMALITIES; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE II; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN CONFORMATION;

EID: 22144481004     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20179     Document Type: Article

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