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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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Bibliografiske detaljer
Udgivet i:Exp Ther Med
Main Authors: Liu, Yang, Zheng, Jie, Song, Li, Fang, Yulian, Sun, Chao, Li, Na, Liu, Geli, Shu, Jianbo
Format: Artigo
Sprog:Inglês
Udgivet: D.A. Spandidos 2020
Fag:
Online adgang: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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