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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...
Autores principales: | Barneaud-Rocca, Damien, Pellissier, Bernard, Borgese, Franck, Guizouarn, Hélène |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2011
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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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