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A novel SPTB gene mutation in neonatal hereditary spherocytosis: A case report

The aim of the present study was to enhance the understanding of the diagnosis and treatment of neonatal hereditary spherocytosis (HS). Gene sequencing and analysis was performed for the crucial splicing signals on the exons and introns of the 302 known pathogenic genes [including ANK1, SPTAN1, SPTA...

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Detalhes bibliográficos
Publicado no:Exp Ther Med
Main Authors: Liu, Yang, Zheng, Jie, Song, Li, Fang, Yulian, Sun, Chao, Li, Na, Liu, Geli, Shu, Jianbo
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7444424/
https://ncbi.nlm.nih.gov/pubmed/32855695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9062
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