Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3100-3107

  Baban, Anwar ^a   Postma, Alex Vincent ^b   Marini, Monica ^c   Trocchio, Gianluca ^c   Santilli, Antonella ^a   Pelegrini, Monica ^a   Sirleto, Pietro ^a   Lerone, Margherita ^c   Albanese, Sonia Bernadette ^a   Barnett, Phil ^b   Boogerd, Cornelis Job ^b   Dallapiccola, Bruno ^a   Digilio, Maria Cristina ^a   Ravazzolo, Roberto ^c,d   Pongiglione, Giacomo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

Atrial septal defects; Conduction defects; Gain of function mutation; TBX5 mutations; Tetralogy of Fallot (TOF)

Indexed keywords

LEUCINE; SERINE; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5; GATA4 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; LUCIFERASE; NKX2-5 PROTEIN, HUMAN; PRIMER DNA; T BOX TRANSCRIPTION FACTOR; T-BOX TRANSCRIPTION FACTOR 5; TRANSCRIPTION FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ANEURYSM; ARTICLE; ATRIAL SEPTAL ANEURYSM; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CLINICAL EVALUATION; COMPLETE HEART BLOCK; CONTROLLED STUDY; ELECTROCARDIOGRAPHY; EXON; FALLOT TETRALOGY; GAIN OF FUNCTION MUTATION; GATA4 GENE; GENE SEQUENCE; GENETIC SCREENING; HEART ARRHYTHMIA; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE EXTRASYSTOLE; HETEROZYGOTE; HOLT ORAM SYNDROME; HUMAN; ITALY; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MOROCCAN; NKX2.5 GENE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOGRAPHY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TBX5 GENE; CASE REPORT; DNA SEQUENCE; FEMALE; GENETICS; IMMUNOPRECIPITATION; MISSENSE MUTATION; MUTATION; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION;

DNA PRIMERS; FEMALE; GATA4 TRANSCRIPTION FACTOR; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOPRECIPITATION; ITALY; LUCIFERASES; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; T-BOX DOMAIN PROTEINS; TETRALOGY OF FALLOT; TRANSCRIPTION FACTORS;

EID: 84911059586     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36783     Document Type: Article

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