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Updated: Jan 14, 2026

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在一个单一家庭的内部TTN删除,有扩展性心肌病变

Marketa Wayhelova1, Petra Peldova1, Alice Krebsova2

  • 1Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

The application of clinical genetics
|October 23, 2025
PubMed
概括

在一个捷克家庭中发现了两种新的内基因TTN基因缺失,其中一家患有扩张性心肌病. 这些遗传变异突出了这种心脏病的各种原因以及遗传查的重要性.

关键词:
在 TTN 基因上.临床外基因组测序 临床外基因组测序副本数量变化的变化删除删除删除删除扩张性心肌病症 扩张性心肌病症

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