Germline L611S mutation in a child with thrombocytosis.
作者信息
Aral Bernard, Courtois Martine, Ragot Sylviane, Bourgeois Valentin, Bottolier-Lemallaz Elodie, Briandet Claire, Girodon François
机构信息
Laboratoire de génétique chromosomique et moléculaire, Pôle Biologie, CHU de Dijon, France.
Service d'Hématologie Biologique, Pôle Biologie, CHU de Dijon, France.
出版信息
Haematologica. 2018 Aug;103(8):e372-e373. doi: 10.3324/haematol.2018.188995. Epub 2018 Mar 22.
Abstract
摘要
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本文引用的文献
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Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods.骨髓增殖性肿瘤中钙网蛋白突变：三种诊断方法的比较
PLoS One. 2015 Oct 26;10(10):e0141010. doi: 10.1371/journal.pone.0141010. eCollection 2015.
2
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.全外显子组测序鉴定出三阴性骨髓增殖性肿瘤中的新型MPL和JAK2突变。
Blood. 2016 Jan 21;127(3):325-32. doi: 10.1182/blood-2015-07-661835. Epub 2015 Sep 30.
3
Back to biology: new insights on inheritance in myeloproliferative disorders.回归生物学：骨髓增殖性疾病遗传方面的新见解。
Curr Hematol Malig Rep. 2014 Dec;9(4):311-8. doi: 10.1007/s11899-014-0232-3.
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Hereditary erythrocytosis, thrombocytosis and neutrophilia.遗传性红细胞增多症、血小板增多症和嗜中性粒细胞增多症。
Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.
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Germline JAK2 mutation in a family with hereditary thrombocytosis.一个遗传性血小板增多症家族中的种系JAK2突变
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