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Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of

机译：血小板减少症患者患者的致病机制与临床研究由于P.E527K函数变体

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期刊名称 Haematologica
作者
Serena Barozzi; Christian A. Di Buduo; Caterina Marconi; Valeria Bozzi; Marco Seri; Francesca Romano; Alessandra Balduini; Alessandro Pecci;
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年(卷),期 2021(106),3
年度 2021
页码 918–922
总页数 5
原文格式 PDF
正文语种
中图分类血液学检验;
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1. Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC [J] . Serena Barozzi, Christian A. Di Buduo, Caterina Marconi, Haematologica . 2021,第3期

机译：血小板减少症患者的致病机制及临床研究，由于<斜斜体> SRC的函数变体，
2. Clinical Spectrum of Patients with Pathogenic Variant of STAT3 conferring Gain-of-Function: A Mimic of Autoimmune Lymphoproliferative Syndrome [J] . Constantine Gregory, Su Helen, Folio Les, Blood: The Journal of the American Society of Hematology . 2018,第NovaelaTreatmentAppr期

机译：赋予术语增益的患者致病患者的临床谱：自身免疫性淋巴抑制性综合征的模拟
3. Clinical signature and pathogenetic factors of diabetes associated with pancreas disease (T3cDM): a prospective observational study in surgical patients. [J] . Gianpaolo Balzano, Erica Dugnani, Valentina Pasquale, Acta diabetologica. . 2014,第5期

机译：胰腺疾病（T3cDM）相关的糖尿病的临床特征和致病因素：对外科患者的前瞻性观察研究。
4. Oral Calcium Administration Attenuates Thrombocytopenia in Patients With Dengue Fever.Report of a Pilot Study [C] . Jorge Isaac Cabrera-Cortina, Emilio Sanchez-Valdez, Dora Cedas-DeLezama, Proceedings of the Western Pharmacology Society . 2008

机译：口服钙管理抑制登革热患者的血小板减少症。试点研究报告
5. Vascular dementia: Pathogenetic and clinical aspects. [D] . Wallin, Anders Peter. 1989

机译：血管性痴呆：发病和临床方面。
6. Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies Clinical Responses and Critical Issues for Personalized Therapy [O] . Robertino Dilena, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, 2018

机译：因功能获得性KCNT1突变而在2例因癫痫发作而发生局灶性癫痫发作（EIMFS）的早期患者中使用奎尼丁进行早期治疗：功能研究临床反应和个性化治疗的关键问题
7. Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 [O] . Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, 2021

机译：纠正：日本患者临床和免疫异质性，Stat3中的函数变异患者

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of

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