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Weak D caused by a founder deletion in the RHD gene.
Fichou Y, Chen JM, Le Maréchal C, Jamet D, Dupont I, Chuteau C, Durousseau C, Loirat MJ, Bailly P, Férec C. Fichou Y, et al. Transfusion. 2012 Nov;52(11):2348-55. doi: 10.1111/j.1537-2995.2012.03606.x. Epub 2012 Mar 15. Transfusion. 2012. PMID: 22420867
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C. Guéguen P, et al. Among authors: fichou y. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.
84 results