A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing-Reference-Cited by-同舟云学术

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A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing

Published:2020-01-01 Issue:1 Volume:25 Page:400-404
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Chen Junkun¹,Lin Shaobin²^ORCID,Gan Jinghui¹^ORCID,Xin Xiaoqin³,Huang Jungao¹

Affiliation:

1. Department of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, People’s Republic of China

2. Fetal Medicine Centre, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, People’s Republic of China

3. Department of Clinical Laboratory, Ganzhou People’s Hospital, Ganzhou, People’s Republic of China

Funder

The Research Project of Health Department of Jiangxi Province

Publisher

Informa UK Limited

Subject

Hematology,Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/16078454.2020.1841920

Reference25 articles.

1. A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC)

2. A Novel Mutation at HBB: c.91delA (Codon 30, –A) Causing β-Thalassemia in a Chinese Family

3. Proficiency testing program for hemoglobin E, A2 and F analysis in Thailand using lyophilized hemoglobin control materials

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1. Detecting rare thalassemia in children with anemia using third-generation sequencing;Hematology;2023-08-07

2. Identification of a Novel 7-bp Deletion in the α-Globin Gene Cluster in One Chinese Family;Hemoglobin;2023-03-04

3. Identification of novel mutations in β-thalassemia patients in Maysan Governorate, Iraq;Molecular Biology Reports;2023-01-22

4. Advances in screening of thalassaemia;Clinica Chimica Acta;2022-09

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