Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak

Missense mutations in the erythroid band 3 protein (Anion Exchanger 1) have been associated with hereditary stomatocytosis. Features of cation leaky red cells combined with functional expression of the mutated protein led to the conclusion that the AE1 point mutations were responsible for Na+ and K...

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Bibliographic Details
Main Authors: Damien Barneaud-Rocca, Bernard Pellissier, Franck Borgese, Hélène Guizouarn
Format: Article
Language:English
Published: Hindawi Limited 2011-01-01
Series:International Journal of Cell Biology
Online Access:http://dx.doi.org/10.1155/2011/136802