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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Campbell, Nzali, Sinagra, Gianfranco, Jones, Kenneth L., Slavov, Dobromir, Gowan, Katherine, Merlo, Marco, Carniel, Elisa, Fain, Pamela R., Aragona, Pierluigi, Di Lenarda, Andrea, Mestroni, Luisa, Taylor, Matthew R. G.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2013
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812167/
https://ncbi.nlm.nih.gov/pubmed/24205113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0078104
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg