Targeted locus amplification for targeted re-sequencing of the ENG, ACVRL1 and SMAD4 genes in hereditary hemorrhagic telangiecstasia

Ploos van Amstel J. K.; de Vree P. J. P.; Elzo de Wit E.; Marjon J. Verstegen M. J.; Westermann C. J. J.; Snijder R. J.; Letteboer T. G. W.; Mager J. J.; de Laat W.

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Targeted locus amplification for targeted re-sequencing of the ENG, ACVRL1 and SMAD4 genes in hereditary hemorrhagic telangiecstasia

机译：靶向基因座扩增用于遗传性出血性毛细血管扩张症中ENG，ACVRL1和SMAD4基因的靶向重测序

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《Angiogenesis》 |2015年第4期|共1页
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Ploos van Amstel J. K.; de Vree P. J. P.; Elzo de Wit E.; Marjon J. Verstegen M. J.; Westermann C. J. J.; Snijder R. J.; Letteboer T. G. W.; Mager J. J.; de Laat W.;
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正文语种 eng
中图分类心脏、血管（循环系）疾病;
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1. Targeted locus amplification for targeted re-sequencing of the ENG, ACVRL1 and SMAD4 genes in hereditary hemorrhagic telangiecstasia [J] . Ploos van Amstel J. K., de Vree P. J. P., Elzo de Wit E., Angiogenesis . 2015,第4期

机译：靶向基因座扩增用于遗传性出血性毛细血管扩张症中ENG，ACVRL1和SMAD4基因的靶向重测序
2. Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital [J] . Torbj?rn Karlsson, Honar Cherif Upsala journal of medical sciences . 2018,第3期

机译：ENG，ACVRL1和SMAD4基因的突变以及遗传性出血性毛细血管扩张的临床表现：乌普萨拉大学医院奥斯勒疾病中心的经验
3. The ACVRL1 c.31435A > G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations [J] . Pawlikowska Ludmila, Nelson Jeffrey, Guo Diana E., American journal of medical genetics, Part A . 2015,第6期

机译：ACVRL1 c.31435A> G多态性与ENG突变的遗传性出血性毛细血管扩张患者的器官血管畸形相关，但ACVRL1突变的患者与器官血管畸形相关
4. Hereditary Cancer Screening Using Targeted Next Generation Sequencing on DNA Extracted from Human Buccal Cells [C] . Mark Dobbs, Pankaj Sethi, Ivan Rueda, International Molecular Medicine Tri-Conference. . 2016

机译：使用靶向下一代测序的遗传性癌症筛选从人颊细胞提取的DNA上
5. Neuroprotective efficacy of minocycline after intracerebral hemorrhage and possible Kv1.3, Kv1.5, HERG and alpha7 nAChR channels as targets for regulating secondary brain injury in hemorrhagic and ischemic stroke. [D] . Yerneni, Tejaswi. 2005

机译：脑出血后米诺环素的神经保护功效以及可能的Kv1.3，Kv1.5，HERG和alpha7 nAChR通道作为调节出血性和缺血性中风继发性脑损伤的靶标。
6. Clinical Features and Mutations in the ENG ACVRL1 and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia [O] . Seung-Tae Lee, Jee-Ah Kim, Shin-Yi Jang, 2009

机译：遗传性出血性毛细血管扩张症韩国患者中ENGACVRL1和SMAD4基因的临床特征和突变
7. Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia [O] . Lee, Seung-Tae, Kim, Jee-Ah, Jang, Shin-Yi, 2009

机译：遗传性出血性毛细血管扩张症韩国患者中ENG，ACVRL1和SMAD4基因的临床特征和突变

Targeted locus amplification for targeted re-sequencing of the ENG, ACVRL1 and SMAD4 genes in hereditary hemorrhagic telangiecstasia

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