A Novel β-Thalassemia Insertion/Frameshift Mutation Between Codons 77/78 (p.Leu78Profs*13 or HBB: c.235_236insC) Observed in a Family in Bangladesh
Author:
Affiliation:
1. Department of Biochemistry and Molecular Biology, Dhaka Shishu Hospital, Dhaka, Bangladesh;
2. Department of Clinical Pathology, Dhaka Shishu Hospital, Dhaka, Bangladesh
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2017.1412982
Reference16 articles.
1. The Thalassaemia Syndromes
2. Report of Joint World Health Organisation-Thalassaemia International Federation (WHO-TIF) Meeting on the Management of Haemoglobin Disorders. Nicosia, Cyprus, 16-18 November 2007. World Health Organ. 2008:1–2.
3. Global epidemiology of haemoglobin disorders and derived service indicators
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1. β-Thalassemia in Bangladesh: Current Status and Future Perspectives;Thalassemia Reports;2024-07-08
2. Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations;Hemoglobin;2020-10-22
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