PRF1 MUTATION VERSUS PERFORIN EXHAUSTION: TWO DIFFERENT SETTINGS FOR HLH DEVELOPMENT

Martin-Martin Lydia; Alonso-Martinez Maria; Delgado-Mingo Nuria; Astigarraga Itziar; Ehl Stephan; Ammann Sandra; Hennies Hans-Christian; Gazquez Juan Francisco; Rodriguez-Sainz Carmen; Gil-Herrera Juana

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PRF1 MUTATION VERSUS PERFORIN EXHAUSTION: TWO DIFFERENT SETTINGS FOR HLH DEVELOPMENT

机译：PRF1突变与穿孔素排泄：HLH发育的两种不同设置

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来源
《Pediatric blood & cancer》 |2015年第3期|共2页
作者
Martin-Martin Lydia; Alonso-Martinez Maria; Delgado-Mingo Nuria; Astigarraga Itziar; Ehl Stephan; Ammann Sandra; Hennies Hans-Christian; Gazquez Juan Francisco; Rodriguez-Sainz Carmen; Gil-Herrera Juana;
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正文语种 eng
中图分类儿科学;
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1. PRF1 MUTATION VERSUS PERFORIN EXHAUSTION: TWO DIFFERENT SETTINGS FOR HLH DEVELOPMENT [J] . Martin-Martin Lydia, Alonso-Martinez Maria, Delgado-Mingo Nuria, Pediatric blood & cancer . 2015,第Suppla3期

机译：PRF1突变与穿孔素排泄：HLH发育的两种不同设置
2. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. [J] . Zhang K, Jordan MB, Marsh RA, Blood: The Journal of the American Society of Hematology . 2011,第22期

机译：PRF1，MUNC13-4和STXBP2的亚型突变与成人发作的家族性HLH相关。
3. Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition [J] . Chaudhry Mohammed S., Gilmour Kimberly C., House Imran G., Oncoimmunology. . 2016,第7期

机译：穿孔蛋白（PRF1）基因的畸形突变作为遗传性癌症倾向的原因
4. Evolutional Analysis in Determining Pathogenic versus Nonpathogenic Mutations of ATPase 6 in Human Mitochondriopathy [C] . CHIN-YUAN TZEN, TSU-YEN WU Asian Society for Mitochondrial Research and Medicine . 2005

机译：在人体线粒体病变中确定ATP酶6的致病与非致病性突变的进化分析
5. Time to Exhaustion in Prolonged Cycling with the Consumption of G2 versus Accelerade. [D] . Monberger, Melony. 2013

机译：G2消耗量与Accelerade消耗量在长时间骑车时的疲惫时间。
6. Hypomorphic mutations in PRF1 MUNC13-4 and STXBP2 are associated with adult-onset familial HLH [O] . Kejian Zhang, Michael B. Jordan, Rebecca A. Marsh, -1

机译：PRF1MUNC13-4和STXBP2的亚型突变与成人发作的家族性HLH相关
7. Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition [O] . Chaudhry MS, Gilmour KC, House IG, 2016

机译：穿孔素（pRF1）基因中的错义突变是遗传性癌症易感性的原因

PRF1 MUTATION VERSUS PERFORIN EXHAUSTION: TWO DIFFERENT SETTINGS FOR HLH DEVELOPMENT

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