Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Human Mutation

Volumn 19, Issue 3, 2002, Pages 209-216

  Otto, Florian ^a,d   Kanegane, Hirokazu ^b   Mundlos, Stefan ^c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Nothnagel Laboratorien   (Germany)

Author keywords

CBFA1; CCD; Cleidocranial dysplasia; Core binding factor; Differentiation; Osteoblast; Runt domain; RUNX2; Transcription factor

Indexed keywords

GENE PRODUCT; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RUNX2; UNCLASSIFIED DRUG;

ANTERIOR FONTANEL; AUTOSOMAL DOMINANT DISORDER; CARTILAGE CELL; CHROMOSOME 6P; CHROMOSOME DELETION; CHROMOSOME INSERTION; CHROMOSOME TRANSLOCATION; CLEIDOCRANIAL DYSPLASIA; CRANIOFACIAL SYNOSTOSIS; DENTITION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOBLAST; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DNA BINDING; REVIEW; SHORT STATURE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; CORE BINDING FACTOR ALPHA SUBUNITS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; TRANSCRIPTION FACTORS;

WORMIA;

EID: 0036186852     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10043     Document Type: Review

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