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:
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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

Internet

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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