A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

Macrothrombocytopenias are the most important subgroup of inherited thrombocytopenias. This subgroup is particularly heterogeneous because the affected genes are involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Herein we describe the clinical and...

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Main Authors: Manchev, Vladimir T., Hilpert, Morgane, Berrou, Eliane, Elaib, Ziane, Aouba, Achille, Boukour, Siham, Souquere, Sylvie, Pierron, Gerard, Rameau, Philippe, Andrews, Robert, Lanza, François, Bobe, Regis, Vainchenker, William, Rosa, Jean-Philippe, Bryckaert, Marijke, Debili, Najet, Favier, Remi, Raslova, Hana
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Hematology 2014
Assuntos:
Platelets and Thrombopoiesis
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4199957/
https://ncbi.nlm.nih.gov/pubmed/25061177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-01-551820
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