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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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| 主要な著者: | , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2013
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| 主題: | |
| オンライン･アクセス: | 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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