A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation

European Journal of Medical Genetics

Volumn 57, Issue 1, 2014, Pages 25-31

  Wang, Jun ^a   Zhang, Dai Fu ^a   Sun, Yu Min ^b   Yang, Yi Qing ^c  

^a TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Jing An District Hospital   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Atrial fibrillation; Genetics; PITX2c; Reporter gene; Transcriptional factor

Indexed keywords

AMINO ACID; GENOMIC DNA; GLUCOSE; MUTANT PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX2C; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BIOASSAY; BODY MASS; CARDIOVERSION; CHINESE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; DRINKING BEHAVIOR; ELECTROCARDIOGRAM; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; GLUCOSE BLOOD LEVEL; HEART ATRIUM FIBRILLATION; HEART LEFT VENTRICLE EJECTION FRACTION; HETEROZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONHUMAN; PATIENT HISTORY OF THERAPY; PENETRANCE; RESTING HEART RATE; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SMOKING; SYSTOLIC BLOOD PRESSURE; THROMBOEMBOLISM; TRANSCRIPTION INITIATION; TRIACYLGLYCEROL BLOOD LEVEL;

ATRIAL FIBRILLATION; GENETICS; PITX2C; REPORTER GENE; TRANSCRIPTIONAL FACTOR;

ADULT; AMINO ACID SEQUENCE; ATRIAL FIBRILLATION; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 84892549177     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.11.004     Document Type: Article

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