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Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene

机译：血友病A：不同的表型可以通过F8基因中的致病性突变的多种和可变效应来解释

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Giancarlo Castaman;
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1. Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. [J] . Santacroce R, Santoro R, Sessa F, Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis . 2008,第3期

机译：40名意大利患者血友病A突变的筛查：F8基因内含子10中新的G-to-A突变是意大利南部轻度血友病A的推定原因。
2. Clinical manifestation of hemophilia A in the absence of mutations in the F8 F8 gene that encodes FVIII: role of microRNAs [J] . Jankowska Katarzyna I., McGill Joseph, Pezeshkpoor Behnaz, Transfusion: The Journal of the American Association of Blood Banks . 2020,第2期

机译：编码FVIII的F8 F8基因突变中血友病A中血友病A的临床表现：MicroRNA的作用
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. Investigation of Underlying Reasons of Factor VIM Deficiency in Hemophilia A Patients with Undetectable Mutations in the F8 Gene [C] . O.El-Maarri, C.Klein, J.Schroder, Hemophilia Symposium . 2008

机译：血友病因子vim缺乏症患者F8基因患者
5. Autophagy induced by cooperating oncogenic mutations is essential for the cancer phenotype and requires the expression of the novel cooperation response gene Plac8 [D] . Kinsey, Conan Grant 2010

机译：合作致癌突变诱导的自噬对于癌症表型是必不可少的，并且需要表达新的合作反应基因Plac8
6. Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene [O] . Giancarlo Castaman 2018

机译：血友病A：不同的表型可能是由F8基因致病性突变的多重和可变影响所解释的
7. Chapter 1 Profiling of Mutations in the F8 and F9, Causative Genes of Hemophilia A and Hemophilia B" [O] . Sung Ho, Hee-Jin Kim, Hye Sun 2012

机译：第1章F8和F9中的突变分析，血友病A和血友病的致病基因

Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene

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