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A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

BACKGROUND: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathog...

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Detalles Bibliográficos
Autores principales:	Marín‐Quílez, Ana, Vuelta, Elena, Díaz‐Ajenjo, Lorena, Fernández‐Infante, Cristina, García‐Tuñón, Ignacio, Benito, Rocío, Palma‐Barqueros, Verónica, Hernández‐Rivas, Jesús María, González‐Porras, José Ramón, Rivera, José, Bastida, José María
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	PLATELETS
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306899/ https://www.ncbi.nlm.nih.gov/pubmed/35170221 http://dx.doi.org/10.1111/jth.15672

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