Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia

Published:2012-08-08 Issue:1 Volume:7 Page:
ISSN:1746-1596
Container-title:Diagnostic Pathology
language:en
Short-container-title:Diagn Pathol

Author:

Elmahmoudi Hejer,Ben-lakhal Fatma,Elborji Wijden,Jlizi Asma,Zahra Kaouther,Sassi Rim,Zorgan Moez,Meddeb Balkis,Elgaaied Ben Ammar Amel,Gouider Emna

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Histology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/1746-1596-7-92.pdf

Reference21 articles.

1. Mariani G, Bernardi F: Factor VII Deficiency. Semin Thromb Hemost. 2009, 35: 400-406. 10.1055/s-0029-1225762.

2. Herrmann FH, Wulff K, Auerswald G, et al.: Factor VII deficiency: Clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia. 2009, 15: 267-271. 10.1111/j.1365-2516.2008.01910.x.

3. [ http://www.whf.org ]

4. Nour M, Slama FB, Monastiri K, Hammami M, Helal AN: Prevalence in a Tunisian Arabic population of factor VII DNA variants and relation to factor VIIplasma levels. Clin Chim Acta. 2004, 349: 199-202. 10.1016/j.cccn.2004.06.025.

5. Mtiraoui N, Aboud N, Bouraoui H, Haizem S, Gris JC, Busson M, Tamim H, Almawi WY, Mahjoub T: Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians. Am J Hematol. 2005, 79: 11-16. 10.1002/ajh.20328.

Cited by 5 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. Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity;International Journal of Molecular Sciences;2024-02-17

2. Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency;Blood Coagulation & Fibrinolysis;2022-06-27

3. A novel factor X mutation Cys81 by Arg and a reported factor VII polymorphism Arg353 replaced by Gln co-occured in a patient;Blood Coagulation & Fibrinolysis;2018-01

4. F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency;Thrombosis and Haemostasis;2017

5. A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases;Haemophilia;2013-05-15

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