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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...

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Detalles Bibliográficos
Autores principales: Barneaud-Rocca, Damien, Pellissier, Bernard, Borgese, Franck, Guizouarn, Hélène
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163022/
https://www.ncbi.nlm.nih.gov/pubmed/21876696
http://dx.doi.org/10.1155/2011/136802

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