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Original Article

Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation

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Pages 41-49 | Received 07 Aug 2008, Accepted 13 Aug 2008, Published online: 07 Jul 2009

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James G. White, Steven M. Burris & Brian R. Crowe. (2009) GATA-1, G208S macrothrombocytes are deficient in talin: Immunofluorescence studies. Platelets 20:3, pages 216-224.
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Kerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, Kathrin Groß, Friederike Häuser, Andreas Czwalinna, Josef Erkel, Nele Fritsch, Dana Marandiuc, Martin Schaller, Karl J. Lackner, Heidi Rossmann & Frauke Bergmann. (2022) Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant. Cells 11:19, pages 3071.
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Paul Saultier, Sandrine Cabantous, Michel Puceat, Franck Peiretti, Timothée Bigot, Noémie Saut, Jean‐Claude Bordet, Matthias Canault, Johannes van Agthoven, Marie Loosveld, Dominique Payet‐Bornet, Delphine Potier, Céline Falaise, Denis Bernot, Pierre‐Emmanuel Morange, Marie‐Christine Alessi & Marjorie Poggi. (2021) GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis. Journal of Thrombosis and Haemostasis 19:9, pages 2287-2301.
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Manal Ibrahim-Kosta, Marie-Christine Alessi & Nathalie Hezard. (2020) Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction. Hämostaseologie 40:04, pages 444-459.
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Daniel Bergemalm, Sofia Ramström, Caroline Kardeby, Kjell Hultenby, Anna Göthlin Eremo, Carina Sihlbom, Jörgen Bergström, Jan Palmblad & Maria Åström. (2020) Platelet proteome and function in X−linked thrombocytopenia with thalassemia and <i>in silico</i> comparisons with gray platelet syndrome. Haematologica 106:11, pages 2947-2959.
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Marie-Christine Alessi, Pierre Sié & Bernard Payrastre. (2020) Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders. Journal of Clinical Medicine 9:3, pages 763.
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Carlos R. Ferreira, Dong Chen, Shirley M. Abraham, David R. Adams, Karen L. Simon, May C. Malicdan, Thomas C. Markello, Meral Gunay-Aygun & William A. Gahl. (2017) Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. Molecular Genetics and Metabolism 120:3, pages 288-294.
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Belinda K. Singleton, David J. Roxby, John W. Stirling, Frances A. Spring, Carolyn Wilson, Joyce Poole & David J. Anstee. (2012) A novel GATA 1 mutation ( S top414 A rg) in a family with the rare X ‐linked blood group L u(a‐b‐) phenotype and mild macrothrombocytic thrombocytopenia . British Journal of Haematology 161:1, pages 139-142.
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