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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Hematology 2014
Pynciau:
Platelets and Thrombopoiesis
Mynediad Ar-lein: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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