Open access
Jan 2026
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin‐1/β‐Spectrin Interaction in Hereditary Spherocytosis
In vivo evidence is provided that the Ank1 R1733K mutation impairs erythrocyte membrane stability and cytoskeletal integrity, recapitulating the HS phenotype in mice, which support the pathogenicity of the ANK1 c.5096G>A mutation and offer a useful model for further investigating the molecular mechanisms of HS.
Ling-Long Xu, Jing-Wen Gao, Wen-Ting Zhu et al.
· Human Mutation · 0 citations