Aberrant splicing contributes to severe α-spectrin–linked congenital hemolytic anemia
Author:
Funder
National Institutes of Health
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/127195/files/pdf
Reference51 articles.
1. Deficient Red-Cell Spectrin in Severe, Recessively Inherited Spherocytosis
2. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis
3. Amino-acid substitution in α-spectrin commonly coinherited with nondominant hereditary spherocytosis
4. Inherited hemolytic anemia: a possessive beginner’s guide;Mohandas;Hematology Am Soc Hematol Educ Program,2018
5. Abnormalities of the Erythrocyte Membrane
Cited by 26 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. Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies;Blood Cells, Molecules, and Diseases;2025-02
2. Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report;Molecular Genetics & Genomic Medicine;2024-07
3. Combined metabolomic and proteomic analysis of sepsis related acute liver injury and its pathogenesis research;International Immunopharmacology;2024-03
4. Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea;Journal of Korean Medical Science;2024
5. A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes;HemaSphere;2024-01
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