Prevalence of mutations inELANE,GFI1,HAX1,SBDS,WASandG6PC3in patients with severe congenital neutropenia
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2009.07888.x/fullpdf
Reference26 articles.
1. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease;Ancliff;Blood,2001
2. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia;Ancliff;Blood,2002
3. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia;Ancliff;Blood,2006
4. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register;Bellanne-Chantelot;Blood,2004
5. Mutations in SBDS are associated with Shwachman-Diamond syndrome;Boocock;Nature Genetics,2003
Cited by 144 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. Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency;2024-07-11
2. Long‐lasting autoimmune neutropenia and GFI1 variant: A case of familial inheritance;British Journal of Haematology;2024-06-20
3. Skin Hypopigmentation in Hematology Disorders;Hematology Reports;2024-06-04
4. Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency;2024-05-14
5. Neutrophils and neutrophil extracellular traps in oral health and disease;Experimental & Molecular Medicine;2024-05-01
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