A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia

Genetics and Molecular Research

Volumn 10, Issue 4, 2011, Pages 3539-3544

  Fang, C Y ^a   Xue, J J ^a   Tan, L ^a   Jiang, C H ^a   Gao, Q P ^a   Liang, D S ^a   Wu, L Q ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

C.549delC; CCD; DHPLC; Mutation analysis; RUNX2

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR RUNX2; RUNX2 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CHINESE; CLEIDOCRANIAL DYSPLASIA; CODON; CONTROLLED STUDY; DELETION MUTANT; FAMILY STUDY; FEMALE; GENE SEQUENCE; GENETIC CODE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MUTATIONAL ANALYSIS; RUNX2 GENE; YOUNG ADULT; ADOLESCENT; AMINO ACID SEQUENCE; ASIAN; CHEMISTRY; CHINA; FAMILY; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; RADIOGRAPHY;

ADOLESCENT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEQUENCE DELETION;

EID: 84865661447     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2011.December.14.5     Document Type: Article

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