Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations

American Journal of Human Genetics

Volumn 71, Issue 4, 2002, Pages 724-738

  Yoshida, Taketoshi ^a   Kanegane, Hirokazu ^a   Osato, Motomi ^b   Yanagida, Masatoshi ^b   Miyawaki, Toshio ^c   Ito, Yoshiaki ^b   Shigesada, Katsuya ^c  

^a TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^b Department of Genetics and Molecular Biology ^*  (Japan)

^c KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RUNX2; TUMOR PROTEIN;

ARTICLE; CELL FRACTIONATION; CLEIDOCRANIAL DYSPLASIA; FEMALE; GENETICS; GENOTYPE; HETEROZYGOTE; HUMAN; JAPAN; MALE; MOLECULAR GENETICS; MUTATION; PHENOTYPE; PHYSIOLOGY; PROTEIN TERTIARY STRUCTURE; STATISTICS; TRANSACTIVATION;

CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; STATISTICS; SUBCELLULAR FRACTIONS; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 0036781942     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342717     Document Type: Article

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