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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2013
Предметы:
Research Article
Online-ссылка: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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