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

Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of t...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3775762/
https://ncbi.nlm.nih.gov/pubmed/24069336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0074728
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