A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family-Reference-Cited by-同舟云学术

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A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family

Published:2021-06-04 Issue: Volume: Page:1-3
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Yin Zhenzhen¹,Hao Yuqi²,Huang Xiaoyan³,Chen Xiaohang⁴,Chen Shiping³,Li Gaochi⁴,Chen Chuyan¹,Wei Fengxiang⁴

Affiliation:

1. Nanfang College, Guangzhou, Guangdong Province, China

2. Anhui Jinzhai Technical College (Anhui Jinzhai Vocational School), Liuan, Anhui Province, China

3. Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, Guandong Province, China

4. The Genetics Laboratory, Shenzhen Longgang District Maternity and Child Healthcare Hospital, Shenzhen, Guandong Province, China

Funder

Shenzhen Engineering Laboratory for Innovative Molecular Diagnostics

Science, Technology and Innovation Commission of Shenzhen Municipality

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2021.1925292

Reference16 articles.

1. Thalassaemia

2. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

3. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

4. α-Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis

5. Co-inheritance of Hb Pak Num Po, a novel ?1 gene mutation, and ?0 thalassemia associated with transfusion-dependent Hb H disease

Cited by 1 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. Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience;Indian Journal of Hematology and Blood Transfusion;2023-10-03

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