Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia

Annals of Clinical and Laboratory Science

Volumn 38, Issue 1, 2008, Pages 15-24

  Xuan, Dongying ^a   Li, Shi ^b   Zhang, Xiong ^a   Hu, Fei ^a   Lin, Lixin ^a   Wang, Chunxian ^a   Zhang, Jincai ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b FOURTH MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Cleidocranial dysplasia; Joint malformations; RUNX2 mutation; RUNX2 protein localization

Indexed keywords

ARGININE; GLYCINE; TRANSCRIPTION FACTOR RUNX2;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY BUILD; CARTILAGE CELL; CASE REPORT; CHINESE; CLEIDOCRANIAL DYSPLASIA; CODON; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OSTEOBLAST; PRIORITY JOURNAL; RUNX2 GENE; TARSOMETATARSAL JOINT;

ADOLESCENT; ADULT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NIH 3T3 CELLS; PROTEIN TRANSPORT; RADIOGRAPHY, THORACIC; SUBCELLULAR FRACTIONS;

EID: 40049093228     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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