Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis

Background: Hereditary spherocytosis (HS) is an autosomal dominant (AD) and autosomal recessive (AR) disorder that is mostly caused by mutations of the erythrocyte membrane-related gene ANK1. Methods: Clinical and genetic testing data of 17 HS children with ANK1 gene mutations were retrospectively c...

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Detalles Bibliográficos
Autores principales: Kang, Meiyun, Li, Huimin, Zhu, Jun, Zhu, Liwen, Hong, Yue, Fang, Yongjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9929461/
https://www.ncbi.nlm.nih.gov/pubmed/36816036
http://dx.doi.org/10.3389/fgene.2023.1088985

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9929461/
https://www.ncbi.nlm.nih.gov/pubmed/36816036
http://dx.doi.org/10.3389/fgene.2023.1088985

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