Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1
Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1
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United States: National Academy of Sciences
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Language
English
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Publisher
United States: National Academy of Sciences
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Contents
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 clinical presentation. Both mutations slowed inactivati...
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Full title
Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1
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TN_cdi_proquest_journals_1318855847
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1318855847
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1219777110
