Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices

Gardos channelopathy (Gardos-HX) or type 2 stomatocytosis/xerocytosis is a hereditary hemolytic anemia due to mutations in the KCNN4 gene. It is rarer than inherited type 1 xerocytosis due to PIEZO1 mutations (Piezo1-HX) and its diagnosis is difficult given the absence of a specific clinical or biol...

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Detalhes bibliográficos
Publicado no:Front Physiol
Main Authors: Picard, Véronique, Guitton, Corinne, Mansour-Hendili, Lamisse, Jondeau, Bernard, Bendélac, Laurence, Denguir, Maha, Demagny, Julien, Proulle, Valérie, Galactéros, Frédéric, Garçon, Loic
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Physiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7841495/
https://ncbi.nlm.nih.gov/pubmed/33519508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2020.602109
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