A Novel NKX2.5 Loss-of-function mutation associated with congenital bicuspid aortic valve

American Journal of Cardiology

Volumn 114, Issue 12, 2014, Pages 1891-1895

  Qu, Xin Kai ^a   Qiu, Xing Biao ^a   Yuan, Fang ^a   Wang, Juan ^b   Zhao, Cui Mei ^b   Liu, Xing Yuan ^b   Zhang, Xian Ling ^b   Li, Ruo Gu ^a   Xu, Ying Jia ^a   Hou, Xu Min ^a   Fang, Wei Yi ^a   Liu, Xu ^a   Yang, Yi Qing ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5; DNA; HOMEODOMAIN PROTEIN; NKX2-5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AORTA VALVE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BICUSPID AORTIC VALVE; CHROMOSOME; CONTROLLED STUDY; DEVELOPMENTAL GENE; DNA FLANKING REGION; ELECTROPHORESIS; EXON; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HEART DEVELOPMENT; HETEROZYGOTE; HUMAN; INTRON; LOSS OF FUNCTION MUTATION; LUCIFERASE ASSAY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MORPHOGENESIS; MUTATIONAL ANALYSIS; NKX2.5 GENE; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; TRANSCRIPTION INITIATION; DOPPLER ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; HEART VALVE DISEASES; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PROSPECTIVE STUDY;

AORTIC VALVE; DNA; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY, DOPPLER, COLOR; ELECTROCARDIOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEART VALVE DISEASES; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; PROSPECTIVE STUDIES; TRANSCRIPTION FACTORS;

EID: 84921753030     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2014.09.028     Document Type: Article

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