Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual-Reference-Cited by-同舟云学术

Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual

Published:2018-05-04 Issue:3 Volume:42 Page:184-188
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Pu Jiajie¹^ORCID,Zhang Li¹,Wei Xiaofeng¹,Xu Xiangmin¹

Affiliation:

1. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People’s Republic of China

Funder

National Key R&D Program of China

Natural Science Foundation of China

Science and Technology Planning Project of Guangzhou

Natural Science Foundation of Guangdong Province

National Natural Science Foundation of China

National Key Research and Development program of China

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1496928

Reference23 articles.

1. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China

2. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

3. Sickle Cell Disease

4. Molecular Diagnosis of Thalassemias and Hemoglobinopathies

Cited by 6 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. A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual;Hemoglobin;2024-08-05

2. Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25;Hemoglobin;2023-03-04

3. Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report;Hemoglobin;2021-12-27

4. De novo HBB frameshift mutation in a patient with dominant β‐thalassemia major;International Journal of Laboratory Hematology;2021-07-29

5. Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together;Clinical Chemistry and Laboratory Medicine (CCLM);2021-04-23