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Article

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

BMC pediatrics - 16 Jan 2023

Wang Yang, Huang Lan, Zhu Yao, An Xizhou, Li Jiacheng, Zhen Jiangwei, Yu Jie

Abstract excerpt

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 splicing to help minimize the rate of misdiagnosis of HS and enhance clinicians' understanding of the disease....

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Identifiers

PMID: 36647015
DOI: 10.1186/s12887-022-03795-0
PMCID: PMC9841706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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