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

Year Number of Results
1976 1
1993 2
1996 4
1998 1
2002 1
2003 3
2004 3
2005 4
2006 3
2007 1
2011 1
2012 1
2013 1
2014 2
2015 3
2016 1
2017 4
2018 2
2019 1
2020 4
2021 6
2022 1
2024 0

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PubMed for id: 10559

43 results

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Page 1
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues MD, Rosa JP, Petermann R, Maurey H, Auditeau C, Lasne D, Denis CV, Bryckaert M, de Lonlay P, Lavenu-Bombled C, Melki J, Borgel D. Kauskot A, et al. Haematologica. 2018 Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028. Epub 2018 Aug 16. Haematologica. 2018. PMID: 30115659 Free PMC article. No abstract available.
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Ensslen M, Freeze HH. Ng BG, et al. Am J Med Genet A. 2017 Nov;173(11):2906-2911. doi: 10.1002/ajmg.a.38412. Epub 2017 Aug 29. Am J Med Genet A. 2017. PMID: 28856833 Free PMC article.
43 results