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...

Descrición completa

Gardado en:
Detalles 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: American Society of Hematology 2012
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares