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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
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2008 1
2013 1
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PubMed for id: 1811721

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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. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.
Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.
Vettore S, Scandellari R, Moro S, Lombardi AM, Scapin M, Randi ML, Fabris F. Vettore S, et al. Haematologica. 2008 Nov;93(11):1743-7. doi: 10.3324/haematol.12830. Epub 2008 Sep 24. Haematologica. 2008. PMID: 18815197 Free article.