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Characterization of a novel HBB:c.194dup variant of the β-globin gene combined with six alpha genes

β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was...

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Detalles Bibliográficos
Autores principales:	Huang, Jungao, Ding, Le, Chen, Junkun, Chen, Shiping, Tian, Peirun, Xie, Jun, Huang, Xiaoyan, Xin, Xiaoqin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112789/ https://www.ncbi.nlm.nih.gov/pubmed/35549527 http://dx.doi.org/10.1177/03000605221099013

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