Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin. There were many classics methods to diagnose thalassemia, but a...

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Detalles Bibliográficos
Autores principales: Zhong, Guoxing, Zhong, Zeyan, Guan, Zhiyang, Chen, Dina, Wu, Zhiyong, Yang, Kunxiang, Chen, Dan, Liu, Yinyin, Xu, Ruofan, Chen, Jianhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511401/
https://www.ncbi.nlm.nih.gov/pubmed/36171890
http://dx.doi.org/10.3389/fgene.2022.984996

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511401/
https://www.ncbi.nlm.nih.gov/pubmed/36171890
http://dx.doi.org/10.3389/fgene.2022.984996

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