A novel mutation in MT-CYB related with hepatic steatosis, vision problems, and recurrent stroke-like episodes

Prasun Pankaj; Go Allysa Marie; Williamson Amy; Chatzicharalampous Charalampos; Schiano Thomas; Diaz George

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A novel mutation in MT-CYB related with hepatic steatosis, vision problems, and recurrent stroke-like episodes

机译：MT-CYB的新型突变与肝脂肪变性，视力问题和中风反复发作有关

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来源
《Mitochondrion》 |2016年第null期|共1页
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Prasun Pankaj; Go Allysa Marie; Williamson Amy; Chatzicharalampous Charalampos; Schiano Thomas; Diaz George;
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正文语种 eng
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专利

1. A novel mutation in MT-CYB related with hepatic steatosis, vision problems, and recurrent stroke-like episodes [J] . Prasun Pankaj, Go Allysa Marie, Williamson Amy, Mitochondrion . 2016,第Null期

机译：MT-CYB的新型突变与肝脂肪变性，视力问题和中风反复发作有关
2. Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus [J] . American journal of medical genetics, Part A . 2014,第11期

机译：一名年轻的复发性中风样发作和癫痫持续状态的年轻患者的新型MTCYB突变
3. A8344G tRNA(Lys) mutation associated with recurrent brain stem stroke-like episodes. [J] . Zaganas I, Latsoudis H, Papadaki E, Journal of neurology . 2009,第2期

机译：A8344G tRNA（Lys）突变与复发性脑干中风样发作有关。
4. SWTV-ACE: Spatially Weighted Regularization Based Attenuation Coefficient Estimation Method for Hepatic Steatosis Detection [C] . Farah Deeba, Caitlin Schneider, Shahed Mohammed, International Conference on Medical Image Computing and Computer-Assisted Intervention . 2019

机译：SWTV-ACE：基于空间加权正则化的肝脂肪变性检测的衰减系数估计方法
5. Lipoprotein Receptor SR-B1 Deficiency Enhances Adipose Tissue Inflammation and Reduces Susceptibility to Hepatic Steatosis During Diet-Induced Obesity in Mice [D] . ?Rivera Vega, Katherine Solange 2020

机译：脂蛋白受体SR-B1缺乏增强脂肪组织炎症，并在小鼠饮食诱导的肥胖期间减少对肝脏脂肪变性的易感性
6. Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 AG and Myoclonic Epilepsy Associated with Ragged-Red Fibers MTTK 8344AG) by Real-Time Polymerase Chain Reaction [O] . Hongxin Fan, Chris Civalier, Jessica K. Booker, 2006

机译：实时聚合酶链反应检测线粒体DNA中常见的致病突变（线粒体脑病乳酸中毒和中风样发作MTTL1 3243 A G和伴有参差不齐的红色纤维MTTK 8344A G的肌阵挛性癫痫）
7. Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus [O] . Mancuso, Michelangelo, Nesti, Claudia, Ienco, Elena Caldarazzo, 2014

机译：年轻的复发性中风样发作和癫痫持续状态的年轻患者中的新型MTCYB突变

A novel mutation in MT-CYB related with hepatic steatosis, vision problems, and recurrent stroke-like episodes

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