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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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2014
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Accesso online: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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