Annotation error of a common β°-thalassemia mutation (619 bp-deletion) has implications for molecular diagnosis
Author:
Publisher
Wiley
Subject
Hematology
Cited by 8 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. Significance of variant annotation for molecular diagnosis of thalassaemia;Journal of Clinical Pathology;2020-10-20
2. Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR);BMC Medical Genetics;2016-10-19
3. Revisiting a Complex Rearrangement Involving a 619 Base Pairs Deletion, 6 Nucleotide Insertion Followed by a A > G Substitution Causing β°-Thalassemia;Indian Journal of Hematology and Blood Transfusion;2016-05-26
4. Molecular Characterization ofβ-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations;Hemoglobin;2016-03-09
5. Next Generation Sequencing Identifies a Novel Rearrangement in theHBBCluster Permitting to-the-Base Characterization;Human Mutation;2014-12-30
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