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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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Detalles Bibliográficos
Autores principales: Liu, Yang, Zheng, Jie, Song, Li, Fang, Yulian, Sun, Chao, Li, Na, Liu, Geli, Shu, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444424/
https://www.ncbi.nlm.nih.gov/pubmed/32855695
http://dx.doi.org/10.3892/etm.2020.9062