Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: A rare presentation and an analysis of the RUNX2 protein structure

Genetics and Molecular Research

Volumn 13, Issue 1, 2014, Pages 1187-1194

  Wu, L Z ^a   Su, W Q ^b   Liu, Y F ^a   Ge, X ^a   Zhang, Y ^a   Wang, X J ^a  

^a FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^b THIRD MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Cleidocranial dysplasia; Median pseudo cleft palate; R225; RUNX2

Indexed keywords

TRANSCRIPTION FACTOR RUNX2; ARGININE; GLUTAMINE; RUNX2 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CHINESE; CLEFT PALATE; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; DNA SEQUENCE; EXON; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PROTEIN DETERMINATION; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN LOCALIZATION; RUNX2 GENE; SCHOOL CHILD; STRUCTURE ANALYSIS; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITE; CHEMICAL STRUCTURE; CHEMISTRY; FEMALE; GENETICS; METABOLISM; MIDDLE AGED; PATHOLOGY; PEDIGREE;

ADULT; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITES; CHILD; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; FEMALE; GLUTAMINE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE;

EID: 84897560630     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2014.February.27.3     Document Type: Article

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