Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect

Canadian Journal of Cardiology

Volumn 30, Issue 2, 2014, Pages 181-187

  Greenway, Steven C ^a   McLeod, Ross ^b   Hume, Stacey ^c   Roslin, Nicole M ^d   Alvarez, Nanette ^a   Giuffre, Michael ^e   Zhan, Shing H ^f   Shen, Yaoqing ^f   Preuss, Christoph ^g   Andelfinger, Gregor ^g   Jones, Steven J M ^f   Gerull, Brenda ^a,b   Boycott, Kym ^h   Friedman, Jan ⁱ   Michaud, Jacques ^j   Bernier, Francois ^b   Brudno, Michael ^k   Fernandez, Bridget ^l   Knoppers, Bartha ^m   Samuels, Mark ^j   Scherer, Stephen ^k   more..

^a LIBIN CARDIOVASCULAR INSTITUTE OF ALBERTA   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF CALGARY   (Canada)

^f CANADA'S MICHAEL SMITH GENOME SCIENCES CENTRE   (Canada)

^g UNIVERSITY OF MONTREAL   (Canada)

^h UNIVERSITY OF OTTAWA   (Canada)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^j UNIVERSITÉ DE MONTRÉAL   (Canada)

^k UNIVERSITY OF TORONTO   (Canada)

^l MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^m MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; EXOME; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOME; HEART ATRIUM SEPTUM DEFECT; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN FUNCTION;

ACTINS; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA; EXOME; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84893025334     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cjca.2013.12.003     Document Type: Article

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