Dominant-negative alk2 allele associates with congenital heart defects

Circulation

Volumn 119, Issue 24, 2009, Pages 3062-3069

  Smith, Kelly A ^a,b   Joziasse, Irene C ^a   Chocron, Sonja ^a   Van Dinther, Maarten ^c   Guryev, Victor ^a   Verhoeven, Manon C ^a   Rehmann, Holger ^a   Van Der Smagt, Jasper J ^a   Doevendans, Pieter A ^a,b   Cuppen, Edwin ^a   Mulder, Barbara J ^b,e   Ten Dijke, Peter ^c,d   Bakkers, Jeroen ^a,b,f  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Centre for Biomedical Genetics   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f HUBRECHT INSTITUTE   (Netherlands)

Author keywords

ALK2 protein, human; Genes; Heart defects, congenital; Screening; Signal transduction

Indexed keywords

BONE MORPHOGENETIC PROTEIN; PHOSPHOTRANSFERASE; RNA;

ALK2 GENE; ALLELE; ANIMAL CELL; ARTICLE; ATRIOVENTRICULAR CANAL; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EMBRYO; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH;

ACTIVIN RECEPTORS, TYPE I; ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; CATTLE; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; GENES, DOMINANT; HEART; HEART SEPTAL DEFECTS; HUMANS; MALE; MUTATION, MISSENSE; MYOCARDIUM; NETHERLANDS; POLYMORPHISM, SINGLE NUCLEOTIDE; ZEBRAFISH;

EID: 67649519781     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.108.843714     Document Type: Article

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