Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis

Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We used next-generation sequencing–based techniques to identify PIEZO1 mutations in individuals from 9 kindreds referred with suspected hereditar...

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Vydáno v:Blood
Hlavní autoři: Glogowska, Edyta, Schneider, Eve R., Maksimova, Yelena, Schulz, Vincent P., Lezon-Geyda, Kimberly, Wu, John, Radhakrishnan, Kottayam, Keel, Siobán B., Mahoney, Donald, Freidmann, Alison M., Altura, Rachel A., Gracheva, Elena O., Bagriantsev, Sviatoslav N., Kalfa, Theodosia A., Gallagher, Patrick G.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2017
Témata:
Red Cells, Iron, and Erythropoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5649553/
https://ncbi.nlm.nih.gov/pubmed/28716860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2017-05-786004
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