Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 gene...

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Bibliographic Details
Main Authors: Nzali Campbell, Gianfranco Sinagra, Kenneth L Jones, Dobromir Slavov, Katherine Gowan, Marco Merlo, Elisa Carniel, Pamela R Fain, Pierluigi Aragona, Andrea Di Lenarda, Luisa Mestroni, Matthew R G Taylor
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3812167?pdf=render

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http://europepmc.org/articles/PMC3812167?pdf=render

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