Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family
Author:
Affiliation:
1. Department of Pediatrics, Peking University First Hospital, Beijing, People’s Republic of China
Publisher
Informa UK Limited
Subject
Hematology,Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/16078454.2019.1650873
Reference21 articles.
1. Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis
2. Hereditary spherocytosis
3. A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model
4. Red cell membrane disorders
5. Ankyrin Mutations in Hereditary Spherocytosis
Cited by 3 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 Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis;Genetic Testing and Molecular Biomarkers;2024-01-01
2. A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-01
3. Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report;Experimental and Therapeutic Medicine;2022-07-28
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