Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Disease

Judith Yancoski; Carlos Rocco; Andrea Bernasconi; Matias Oleastro; Filomeen Haerynck; Liliana Bezrodnik; Sergio D.Rosenzweig

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Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Disease

机译：突变1623_1624delGCinsTT和IL-12Rb1缺乏症：对孟德尔易感性分枝杆菌病最常见基因的突变创始人效应

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《International journal of infectious diseases :》 |2008年第2期|共页
作者
Judith Yancoski; Carlos Rocco; Andrea Bernasconi; Matias Oleastro; Filomeen Haerynck; Liliana Bezrodnik; Sergio D.Rosenzweig;
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中图分类传染病;
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1. A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients [J] . Ben-MustaphaI., Ben-AliM., MekkiN., Immunogenetics . 2014,第1期

机译：IL12B基因中有1100年历史的创始效应突变是造成孟买人对突尼斯分枝杆菌病的易感性的原因
2. A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants. [J] . Yancoski J, Rocco C, Bernasconi A, Infection, Genetics and Evolution: Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases . 2009,第4期

机译：涉及IL12RB1的具有475年历史的创始效应：一种高度普遍的突变，赋予孟德尔欧洲人后代对分枝杆菌病的易感性。
3. Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia [J] . Alodayani Abdulrahman N., Al-Otaibi Abdulnasir M., Deswarte Caroline, Journal of Clinical Immunology . 2018,第3期

机译：孟德尔对沙特阿拉伯的新创始人IL12B突变引起的分枝杆菌病的易感性
4. IDENTIFY CANCER DRIVER GENES THROUGH SHARED MENDELIAN DISEASE PATHOGENIC VARIANTS AND CANCER SOMATIC MUTATIONS [C] . MENG MA, CHANGCHANG WANG, BENJAMIN S. GLICKSBERG, Pacific Symposium on Biocomputing . 2017

机译：通过共享孟德尔疾病致病性变异和癌细胞突变来识别癌症司机基因
5. Extending Mendelian mutation prediction models that predict if one has a disease-causing mutation based on family history of disease. [D] . Katki, Hormuzd A. 2006

机译：扩展孟德尔突变预测模型，该模型可根据疾病家族史预测是否存在致病突变。
6. A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants [O] . J Yancoski, C Rocco, A Bernasconi, -1

机译：一个475岁的创始人涉及IL12RB1：一种高度普遍的突变赋予欧洲后代的孟德尔对分枝杆菌病的敏感性
7. Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Disease [O] . Yancoski Judith, Rocco Carlos, Bernasconi Andrea, 2008

机译：突变1623_1624delGCinsTT和IL-12Rb1缺乏症：孟德尔易感分枝杆菌疾病的最常见基因的突变创始人效应

Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Disease

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