Evidence of pathogenicity of a mutation in 3′ untranslated region causing mild haemophilia A-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Evidence of pathogenicity of a mutation in 3′ untranslated region causing mild haemophilia A

Published:2016-05-24 Issue:4 Volume:22 Page:598-603
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Pezeshkpoor B.¹²,Berkemeier A- C.¹²,Czogalla K. J.¹²,Oldenburg J.¹²,El-Maarri O.¹³

Affiliation:

1. Institute of Experimental Haematology and Transfusion Medicine; University of Bonn; Bonn Germany

2. Center for Rare Diseases Bonn (ZSEB); University Clinic Bonn; Bonn Germany

3. Department of Natural Sciences; Lebanese American University; Byblos/Beirut Lebanon

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12923/fullpdf

Reference26 articles.

1. Molecular basis of haemophilia A;Oldenburg;Haemophilia,2004

2. F8 genetic analysis strategies when standard approaches fail;Pezeshkpoor;Hamostaseologie,2014

3. Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology;Voelkerding;J Mol Diagn,2010

4. Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8);Dai;J Thromb Haemost,2008

5. cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene;Figueiredo;J Biol Chem,1995

Cited by 12 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. Revision of splicing variants in theDMDgene;2024-02-02

2. Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A;Haemophilia;2023-07-06

3. A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism;Human Molecular Genetics;2022-11-02

4. A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism;2022-08-10

5. Hsa-miR-5581-3p and hsa-miR-542-3p target the F8 gene in hemophilia A without F8 mutations;Mediterranean Journal of Hematology and Infectious Diseases;2021-06-28

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