Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

Human Mutation

Volumn 37, Issue 3, 2016, Pages 269-279

  Brodehl, Andreas ^a   Ferrier, Raechel A ^a   Hamilton, Sara J ^b   Greenway, Steven C ^a   Brundler, Marie Anne ^a   Yu, Weiming ^a   Gibson, William T ^b,c   Mckinnon, Margaret L ^b   Mcgillivray, Barbara ^b   Alvarez, Nanette ^a   Giuffre, Michael ^a   Schwartzentruber, Jeremy ^d   Gerull, Brenda ^a   Boycott, K ^e   Friedman, J ^b   Michaud, J ^f   Bernier, F ^a   Brudno, M ^g   Fernandez, B ^h   Knoppers, B ^d   Samuels, M ^f   Scherer, S ^g   more..

^a UNIVERSITY OF CALGARY   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF OTTAWA   (Canada)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Exome sequencing; Filamin C; FLNC; Heart failure; Restrictive cardiomyopathy

Indexed keywords

FILAMIN; FILAMIN C; PROTEIN AGGREGATE; UNCLASSIFIED DRUG; FLNC PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIAC IMAGING; CELL INCLUSION; CHILD; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; DIASTOLIC DYSFUNCTION; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ELECTROPHORESIS; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FLNC GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRANSFECTION; HEART HYPERTROPHY; HEART MUSCLE BIOPSY; HEART MUSCLE FIBROSIS; HEART TRANSPLANTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; INTESTINE LYMPHANGIECTASIA; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; MYOBLAST; NEXT GENERATION SEQUENCING; PAROXYSMAL ATRIAL FIBRILLATION; PATHOGENICITY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTIVE CARDIOMYOPATHY; TRANSMISSION ELECTRON MICROSCOPY; YOUNG ADULT; CARDIOMYOPATHY; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION;

ADOLESCENT; ADULT; CARDIOMYOPATHIES; CARDIOMYOPATHY, RESTRICTIVE; CHILD, PRESCHOOL; FEMALE; FILAMINS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84957940404     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22942     Document Type: Article

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