Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia

Chinese Journal of Medical Genetics

Volumn 31, Issue 4, 2014, Pages 415-419

  Qi, Zhan ^a   Yang, Wei ^a   Meng, Yan ^a   Liu, Yaping ^a  

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

Cleidocranial dysplasia; Deletion; Duplication; RUNX2 gene

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHINESE; CLEIDOCRANIAL DYSPLASIA; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; RUNX2 GENE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA;

EID: 84907424875     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2014.04.001     Document Type: Article

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