Next Generation Sequencing Identifies a Novel Rearrangement in theHBBCluster Permitting to-the-Base Characterization-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Next Generation Sequencing Identifies a Novel Rearrangement in theHBBCluster Permitting to-the-Base Characterization

Published:2014-12-30 Issue:1 Volume:36 Page:142-150
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Shooter Claire¹,Rooks Helen¹,Thein Swee Lay¹²,Clark Barnaby¹³

Affiliation:

1. King's College London, Faculty of Life Sciences and Medicine, Molecular Haematology; London UK

2. Department of Haematology; King's College Hospital NHS Foundation Trust; London UK

3. Department of Molecular Pathology; Viapath at King's College Hospital NHS Foundation Trust; London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Next-generation sequencing technologies and applications for human genetic history and forensics;Berglund;Investig Genet,2011

2. Formation of large palindromic DNA by homologous recombination of short inverted repeat sequences in Saccharomyces cerevisiae;Butler;Genetics,2002

3. Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data;Cheng;J Mol Diagn,2014

4. Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification;Craig;Blood,1994

5. A distant gene deletion affects β-globin gene function in an atypical γδβ-thalassemia;Curtin;J Clin Invest,1985

Cited by 19 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. Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia;Diagnostics;2023-01-19

2. Detection of four rare thalassemia variants using Single-molecule realtime sequencing;Frontiers in Genetics;2022-09-02

3. Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing;Gene;2022-05

4. Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient;Frontiers in Pediatrics;2022-03-17

5. Identification of thalassemia gene cluster deletion by long‐read whole‐genome sequencing (LR‐WGS);International Journal of Laboratory Hematology;2021-01-05

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