Diagnosis of Fanconi Anemia by Diepoxybutane Analysis
Author:
Affiliation:
1. Program in Human Genetics and Hematology, The Rockefeller University New York New York
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/0471142905.hg0807s85
Reference63 articles.
1. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
2. Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene
3. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
4. Fanconi anemia diagnosis and the diepoxybutane (DEB) test;Auerbach A.D.;Exp. Hematol.,1993
5. Fanconi anemia and its diagnosis
Cited by 59 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. Aplastic anemia in children: the current concept of differential diagnosis;Pediatric Hematology/Oncology and Immunopathology;2024-07-23
2. Diagnosis and Management of Myelodysplastic Syndrome in a Fanconi Anemia Patient: A Case Report;Pediatric Hematology/Oncology and Immunopathology;2024-04-08
3. The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations;Frontiers in Oncology;2023-12-11
4. When to consider inherited marrow failure syndromes in adults;Hematology;2023-12-08
5. Identification of a robust DNA methylation signature for Fanconi anemia;The American Journal of Human Genetics;2023-11
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