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Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for erythrocytosis in genes belonging to different pathways including oxygen sensing, erythropoiesis and oxygen tra...

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Detalhes bibliográficos
Publicado no:Haematologica
Main Authors: Camps, Carme, Petousi, Nayia, Bento, Celeste, Cario, Holger, Copley, Richard R., McMullin, Mary Frances, van Wijk, Richard, Ratcliffe, Peter J., Robbins, Peter A., Taylor, Jenny C.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5394871/
https://ncbi.nlm.nih.gov/pubmed/27651169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2016.144063
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