Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Copy number analyses, linkage studies, and exome sequencing were used to identify novel mutations affecting PIEZO1, encoded by the FAM38A gene, in 2 multigenerational H...

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Detalhes bibliográficos
Main Authors: Zarychanski, Ryan, Schulz, Vincent P., Houston, Brett L., Maksimova, Yelena, Houston, Donald S., Smith, Brian, Rinehart, Jesse, Gallagher, Patrick G.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2012
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3448561/
https://ncbi.nlm.nih.gov/pubmed/22529292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-04-422253
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