Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.1999.01156.x/fullpdf
Reference11 articles.
1. Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience;Altay;Clinical Genetics,1997
2. Fanconi's anaemia and its variability;Alter;British Journal of Haematology,1993
3. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study;Butturini;Blood,1994
4. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry;Giampietro;Pediatrics,1993
5. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study;Gillio;Blood,1997
Cited by 30 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. The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations;Frontiers in Oncology;2023-12-11
2. Frequency Determination of c.1115_1118delTTGG and c.3788_3790delTCT FANCA Gene Mutation in North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population;Iranian Journal of Pediatric Hematology & Oncology;2022-07-13
3. The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature;Molecular Genetics & Genomic Medicine;2021-05-07
4. Animal models of Fanconi anemia: A developmental and therapeutic perspective on a multifaceted disease;Seminars in Cell & Developmental Biology;2021-05
5. FANCA Gene Mutations in North African Fanconi Anemia Patients;Frontiers in Genetics;2021-02-19
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