A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling-Reference-Cited by-同舟云学术

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

Published:2022-05 Issue:5 Volume:20 Page:1248-1255
ISSN:1538-7836
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:Journal of Thrombosis and Haemostasis

Author:

Marín‐Quílez Ana^ORCID,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^ORCID

Funder

Fundación Mutua Madrileña

Publisher

Elsevier BV

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.15672

Reference26 articles.

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2. Inherited thrombocytopenias: history, advances and perspectives;Nurden;Haematologica,2020

3. Thrombopoietin receptor agonists in hereditary thrombocytopenias;Rodeghiero;J Thromb Haemost,2018

4. Diagnosis of inherited platelet disorders on a blood smear;Zaninetti;J Clin Med,2020

5. Molecular diagnosis of inherited coagulation and bleeding disorders;Bastida;Semin Thromb Hemost,2019

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