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A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3 : evidence of a dominant effect of gain-of-function mutations

机译：一种新的变体格兰兹曼血栓性因丧失的共同遗传和ITGB3的功能突变：有效效果的验证效果

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Loredana Bury; Eva Zetterberg; Eva B. Leinøe; Emanuela Falcinelli; Alessandro Marturano; Giorgia Manni; Alan T. Nurden; Paolo Gresele;
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1. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent [J] . Pillois Xavier, Nurden Alan T. British Journal of Haematology . 2016 ,第4期

机译：格兰茨曼血栓病患者的ITGA2B和ITGB3基因变异之间的连锁不平衡证实大多数致病突变是最近发生的
2. Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia [J] . Lu Zhengjing, Nikuze Lauriane, Zhong Zhoulin, Platelets . 2020 ,第3期

机译：鉴定一种新的致病ITGB3突变和遗传性Glanzmann血栓血管下的两种中国人群中的两种已知突变
3. Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles [J] . Giuseppa Pennetta, Mario Sanhueza, Trudy Gillespie, Biology Open . 2014 ,第1期

机译：ALS8致病基因VAPB的功能增益突变对神经元和肌肉有有害作用ALS8致病基因VAPB的功能增益突变对神经元和肌肉有有害作用对神经元和肌肉有有害影响
4. Action potential abnormalities due to loss- or gain-of-function mutations in KCNJ2 [C] . Wilders Ronald Computing in Cardiology Conference . 2014

机译：由于KCNJ2中功能丧失或获得功能突变而引起的动作电位异常
5. Feasibility & Discovery Using Fox System to Generate Gain-Of-Function Mutations with Hybrid Poplars [D] . Rauschendorfer, James Karl. 2017

机译：利用Fox系统生成具有杂交杨树功能增益突变的可行性和发现
6. A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations [O] . Loredana Bury, Eva Zetterberg, Eva B. Leinøe, 2018

机译：因ITGB3丧失和获得功能突变的共同继承而导致的新型变异性Glanzmann肢体虚弱：功能获得突变的显性作用证据
7. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. : New mutations in Glanzmann patients and carriers [O] . Jallu Vincent, Dusseaux Mathilde, Panzer Simon, 2010

机译：AlphaIIbbeta3整合素：格兰兹曼血栓病的新等位基因变体，对ITGA2B和ITGB3 mRNA的剪接，表达和结构功能产生影响。：Glanzmann患者和携带者中的新突变

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3 : evidence of a dominant effect of gain-of-function mutations

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