Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea

Published:2020-07-01 Issue:4 Volume:40 Page:341-344
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Jung Nani¹^ORCID,Kim Do Hoon²^ORCID,Ha Jung Sook²^ORCID,Shim Ye Jee¹^ORCID

Affiliation:

1. Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea

2. Department of Laboratory Medicine, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2020.40.4.341

Reference10 articles.

1. Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

2. A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

3. Familial essential thrombocythemia: Clinical characteristics of 11 cases in one family

4. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia

5. Familial Essential Thrombocythemia Associated With One-Base Deletion in the 5′-Untranslated Region of theThrombopoietin Gene

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Relative impact of THPO mutation causing hereditary thrombocythemia;Experimental Hematology;2024-06

2. Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family;Annals of Hematology;2023-11-14

3. Disorders of platelets and coagulation, thrombosis and blood transfusion;Neonatal Haematology;2022-06-10

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3