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The Application of Clinical Genetics Volume 14, 2021 - Issue
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Original Research

A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India

Waseem Chauhan1 Department of Zoology, Aligarh Muslim University, Aligarh, IndiaORCID Iconhttps://orcid.org/0000-0002-8980-8406
ORCID Icon,
Mohammad Afzal1 Department of Zoology, Aligarh Muslim University, Aligarh, IndiaCorrespondence[email protected]
,
Zeeba Zaka-ur-Rab2 Department of Pediatrics, Jawahar Lal Nehru Medical College, Aligarh Muslim University, Aligarh, India
&
Md Salik Noorani3 Department of Botany, Jamia Hamdard, New Delhi, India
Pages 77-85 | Published online: 01 Mar 2021

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Aditi Sen, Venu Seenappa, Prantar Chakrabarti & Tuphan Kanti Dolai. (2021) First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population. Hemoglobin 45:5, pages 325-328.
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Süheyl Uçucu, Talha Karabıyık & Fatih M. Azik. (2021) IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient. Hemoglobin 45:4, pages 225-227.
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Articles from other publishers (2)

Abbas Kadhim Jiheel AL-hameedawi & Ali A. A. Al-Shawi. (2023) Identification of novel mutations in β-thalassemia patients in Maysan Governorate, Iraq. Molecular Biology Reports 50:4, pages 3053-3062.
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Waseem Chauhan, Rafat Fatma, Zeeba Zaka-ur-Rab & Mohammad Afzal. (2022) Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report. Journal of Medical Case Reports 16:1.
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