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多重动脉动脉瘤患者的遗传变异

Daniel Körfer1, Caspar Grond-Ginsbach2, Andreas S Peters2,3

  • 1Department of Vascular and Endovascular Surgery, Heidelberg University Hospital, Im Neuenheimer Feld 420, 69120, Heidelberg, Germany. Daniel.Koerfer@med.uni-heidelberg.de.

Langenbeck's archives of surgery
|October 9, 2024
PubMed
概括

在患有多重动脉动脉瘤的患者中发现了血管疾病基因的遗传变异. 整体外基因组测序 (WES) 可以帮助识别这些生殖系变异,以改善临床管理.

关键词:
大动脉动脉瘤是一个大动脉动脉瘤.埃勒斯 - 丹洛斯综合征外体序列的排序是如何进行的基因检测是一种基因检测.遗传变体的遗传变体洛伊斯 - 迪茨综合征 (Loeys-Dietz综合征) 是一种周围动脉动脉瘤 周围动脉动脉瘤

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