Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia

Chinese Journal of Medical Genetics

Volumn 27, Issue 2, 2010, Pages 140-143

  Gao, Chao ^a   Wu, Li ^a   Geng, Xiang Ju ^a   Song, Li Jia ^a   Lou, Qiang ^b  

^a ZHENGZHOU CHILDREN S HOSPITAL   (China)

^b THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

Author keywords

Cleidocranial dysplasia; Gene mutation; RUNX 2 gene

Indexed keywords

GENOMIC DNA; RESTRICTION ENDONUCLEASE; TRANSCRIPTION FACTOR RUNX2;

ARTICLE; BLOOD; CHINESE; CLEIDOCRANIAL DYSPLASIA; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION MAPPING;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; RESTRICTION MAPPING;

EID: 77952006537     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.005     Document Type: Article

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