Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China

Background: Thalassemia is a hereditary blood disease resulting from globin chain synthesis impairment because of α- and/or β-globin gene variants. α-thalassemia is characterized by non-deletional and deletional variants in the HBA gene locus, of which rare deletional variants are difficult to detec...

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Detalles Bibliográficos
Autores principales: Yuan, Yan, Zhou, Xia, Deng, Jing, Zhu, Qun, Peng, Zanping, Chen, Liya, Zou, Ya, Mao, Aiping, Meng, Wanli, Ma, Minhui, Wu, Hongliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020366/
https://www.ncbi.nlm.nih.gov/pubmed/36936435
http://dx.doi.org/10.3389/fgene.2023.1156071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020366/
https://www.ncbi.nlm.nih.gov/pubmed/36936435
http://dx.doi.org/10.3389/fgene.2023.1156071

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