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Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a new variant in the band 3 protein
Red blood cell (RBC) membrane disorders are predominantly caused by mutations resulting in decreased RBC deformability and permeability. We present a family in which, the proband and his daughter presented with pseudohypokalaemia. Studies on the temperature dependence of pseudohypokalaemia suggested...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BMJ Publishing Group
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733106/ https://www.ncbi.nlm.nih.gov/pubmed/33298499 http://dx.doi.org/10.1136/bcr-2020-238428 |