NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

We reported a family with two male siblings affected with infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for the DCM. Next generation sequencing (NGS) with targeted enrichment identified a hemizygous variant c.718G>C (p.Gly240Arg) in the TAZ g...

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Main Authors: Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin
格式: Artigo
語言:Inglês
出版: BMJ Publishing Group 2013
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3604426/
https://ncbi.nlm.nih.gov/pubmed/23345479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007529
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