De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing

BACKGROUND AND AIMS: Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic disorders. Here, two unrelated families with the probands displaying typical manifestations of HS were enrolled. Our study aimed to characterize the effect of two novel variants in HS patients on gene...

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Detalles Bibliográficos
Autores principales: Wang, Yang, Huang, Lan, Zhu, Yao, An, Xizhou, Li, Jiacheng, Zhen, Jiangwei, Yu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841706/
https://www.ncbi.nlm.nih.gov/pubmed/36647015
http://dx.doi.org/10.1186/s12887-022-03795-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841706/
https://www.ncbi.nlm.nih.gov/pubmed/36647015
http://dx.doi.org/10.1186/s12887-022-03795-0

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