Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

Michael V. Zaragoza; Lianna Fung; Ember Jensen; Frances Oh; Katherine Cung; Linda A. McCarthy; Christine K. Tran; Van Hoang; Simin A. Hakim; Anna Grosberg

doi:10.1371/journal.pone.0155421

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Peer-reviewed

Research Article

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

Michael V. Zaragoza ,

* E-mail: mzaragoz@uci.edu

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
⨯
Lianna Fung,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
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Ember Jensen,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
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Frances Oh,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
⨯
Katherine Cung,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
⨯
Linda A. McCarthy,

Affiliation Department of Biomedical Engineering and The Edwards Lifesciences Center for Advanced Cardiovascular Technology, University of California Irvine, Irvine, California, United States of America
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Christine K. Tran,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
⨯
Van Hoang,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
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Simin A. Hakim,

Affiliation UC Irvine Cardiogenomics Program, Department of Pediatrics, Division of Genetics & Genomics and Department of Biological Sciences, University of California Irvine, Irvine, California, United States of America
⨯
Anna Grosberg

Affiliation Department of Biomedical Engineering and The Edwards Lifesciences Center for Advanced Cardiovascular Technology, University of California Irvine, Irvine, California, United States of America
⨯

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

Michael V. Zaragoza,
Lianna Fung,
Ember Jensen,
Frances Oh,
Katherine Cung,
Linda A. McCarthy,
Christine K. Tran,
Van Hoang,
Simin A. Hakim,
Anna Grosberg

Published: May 16, 2016
https://doi.org/10.1371/journal.pone.0155421

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