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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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Bibliografische gegevens
Hoofdauteurs: Barneaud-Rocca, Damien, Pellissier, Bernard, Borgese, Franck, Guizouarn, Hélène
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi Publishing Corporation 2011
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3163022/
https://ncbi.nlm.nih.gov/pubmed/21876696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/136802
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