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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...

詳細記述

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書誌詳細
出版年:Haematologica
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Ferrata Storti Foundation 2016
主題:
オンライン・アクセス: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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