A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family-Reference-Cited by-同舟云学术

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

Published:2013-09-17 Issue:9 Volume:8 Page:e74728
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Guéguen Paul,Rouault Karen,Chen Jian-Min,Raguénès Odile,Fichou Yann,Hardy Elisabeth,Gobin Eric,Pan-petesch Brigitte,Kerbiriou Mathieu,Trouvé Pascal,Marcorelles Pascale,Abgrall Jean-francois,Le Maréchal Cédric,Férec Claude

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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4. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome;P Nurden;Blood,2011

5. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia;A Hart;Immunity,2000

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