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Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis
Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration. In many patients, heterozygous mutations associated with delayed channel inactivation have been identified in PIEZO1. This report describes patients from 2 well-phenoty...
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Vydáno v: | Blood |
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Hlavní autoři: | , , , , |
Médium: | Artigo |
Jazyk: | Inglês |
Vydáno: |
American Society of Hematology
2015
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Témata: | |
On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4566808/ https://ncbi.nlm.nih.gov/pubmed/26198474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-07-657957 |
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