New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

The K(+) channel activated by the Ca(2+), KCNN4, has been shown to contribute to red blood cell dehydration in the rare hereditary hemolytic anemia, the dehydrated hereditary stomatocytosis. We report two de novo mutations on KCNN4, We reported two de novo mutations on KCNN4, V222L and H340N, charac...

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Detalles Bibliográficos
Autores principales: Allegrini, B., Jedele, S., David Nguyen, L., Mignotet, M., Rapetti-Mauss, R., Etchebest, C., Fenneteau, O., Loubat, A., Boutet, A., Thomas, C., Durin, J., Petit, A., Badens, C., Garçon, L., Da Costa, L., Guizouarn, H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393219/
https://www.ncbi.nlm.nih.gov/pubmed/36003639
http://dx.doi.org/10.3389/fphys.2022.918620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393219/
https://www.ncbi.nlm.nih.gov/pubmed/36003639
http://dx.doi.org/10.3389/fphys.2022.918620

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