首页> 外文期刊>American journal of medical genetics, Part A >Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation

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Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation

机译：MEK抑制剂在RIT1突变NOONAN综合征中逆转肥厚性心肌病：第一次，肥厚性心肌病在与RIT1突变相关的NOONAN综合征中逆转

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《American journal of medical genetics, Part A》 |2019年第8期|共2页
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1. Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation [J] . American journal of medical genetics, Part A . 2019,第8期

机译：MEK抑制剂在RIT1突变NOONAN综合征中逆转肥厚性心肌病：第一次，肥厚性心肌病在与RIT1突变相关的NOONAN综合征中逆转
2. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy [J] . Bhaswati Pandit, Anna Sarkozy, Len A Pennacchio, Nature Genetics . 2007,第8期

机译：功能获得性RAF1突变导致肥厚型心肌病的Noonan和LEOPARD综合征
3. Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition [J] . Andelfinger Gregor, Marquis Christopher, Raboisson Marie-Josee, Journal of the American College of Cardiology . 2019,第17期

机译：MEK抑制治疗Noonan综合征的肥厚性心肌病
4. Sarcomere Protein Expression Studies Suggest Mutation-Specific Disease Mechanisms in Human Hypertrophic Cardiomyopathy (HCM) [C] . Ravi Amunugama, Richard Jones, Michael Ford, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2013

机译：Sarcomere蛋白表达研究表明人肥大心肌病变（HCM）中的突变特异性疾病机制
5. Physiologic Studies of Familial Hypertrophic Cardiomyopathy-Related Mutations in Cardiac Troponin T. [D] . Jimenez, Jesus. 2013

机译：心肌肌钙蛋白T中家族性肥厚性心肌病相关突变的生理研究。
6. Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy [O] . Martina Caiazza, Marta Rubino, Emanuele Monda, 2020

机译：用Noonan综合征和肥厚性心肌病的成人患者组合PTPN11和MYBPC3基因突变
7. Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy [O] . Martina Caiazza, Marta Rubino, Emanuele Monda, 2020

机译：用Noonan综合征和肥厚性心肌病的成人患者组合PTPN11和MYBPC3基因突变

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