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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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Glogowska, Edyta, Lezon-Geyda, Kimberly, Maksimova, Yelena, Schulz, Vincent P., Gallagher, Patrick G.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Plenary Paper
Acesso em linha: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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