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Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

Familial xerocytosis (HX) in humans is an autosomal disease that causes dehydration of red blood cells resulting in hemolytic anemia which has been traced to two individual mutations in the mechanosensitive ion channel, PIEZO1. Each mutation alters channel kinetics in ways that can explain the clini...

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Detalhes bibliográficos
Main Authors: Bae, Chilman, Gnanasambandam, Radhakrishnan, Nicolai, Chris, Sachs, Frederick, Gottlieb, Philip A.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3606986/
https://ncbi.nlm.nih.gov/pubmed/23487776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1219777110
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