Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201161.pdf
Reference30 articles.
1. Nurden AT : Glanzmann thrombasthenia. Orphanet J Rare Dis 2006; 1: 10.
2. Seligsohn U, Rososhansky S : A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. Thromb Haemost 1984; 52: 230–231.
3. Awidi AS : Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia. Scand J Haematol 1983; 30: 218–222.
4. Piippo K, Laitinen P, Swan H et al: Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. J Am Coll Cardiol 2000; 35: 1919–1925.
5. Heyer E : One founder/one gene hypothesis in a new expanding population: saguenay (Quebec, Canada). Hum Biol 1999; 71: 99–109.
Cited by 31 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. In vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation;Research and Practice in Thrombosis and Haemostasis;2024-01
2. High Rates of Anti-α<sub>IIb</sub>β<sub>3</sub> Antibodies Produced by a Glanzmann Thrombasthenia Patient after First and Unique Red Blood Cells Administration;Acta Haematologica;2022-09-14
3. Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2021-09
4. Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?;Journal of Blood Medicine;2021-07
5. A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer;Endocrine;2021-03-08
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