A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference15 articles.
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3. Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia;Ittiwut;Br J Haematol,2019
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Cited by 4 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. Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes;Annals of Hematology;2023-07-04
2. A Novel <i>SPTA1</i> Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome;Internal Medicine;2023-01-01
3. A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report;Hematology;2020-01-01
4. Human erythrocytes: cytoskeleton and its origin;Cellular and Molecular Life Sciences;2019-10-25
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