Commentary on 'Novel Insights from Clinical Practice p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease'

Serra Walter

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Commentary on 'Novel Insights from Clinical Practice p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease'

机译：评注“临床实践的新见解P.G360R是一种致病性GLA基因突变，其负责法布里病的经典表型”

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来源
《Cardiology》 |2019年第4期|共3页
作者
Serra Walter;
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作者单位

Azienda Osped Univ Parma Cardiol Unit Via A Gramsci 14 IT-43100 Parma Italy;

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原文格式 PDF
正文语种 eng
中图分类心脏、血管（循环系）疾病;
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专利

1. Commentary on "Novel Insights from Clinical Practice p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease" [J] . Serra Walter Cardiology . 2019,第3a4期

机译：评注“临床实践的新见解P.G360R是一种致病性GLA基因突变，其负责法布里病的经典表型”
2. Correction: Fabry disease due to D313Y and novel GLA mutations,Fabry disease due to D313Y and novel GLA mutations [J] . BMJ Open . 2018,第3期

机译：更正：D313Y和新的GLA突变引起的法布里疾病，D313Y和新的GLA突变引起的法布里疾病
3. Fabry disease due to D313Y and novel GLA mutations,Correction: Fabry disease due to D313Y and novel GLA mutations [J] . Matthaios Speletas, Eleni Manou, Gedeon Loules, BMJ Open . 2017,第10期

机译：由于D313Y和新的GLA突变而导致的法布里病，更正：由于D313Y和新的GLA突变而导致的法布里病
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. Modeling clinically heterogeneous Alzheimer's disease-linked Presenilin mutations with transgenic Drosophila. [D] . Seidner, Glen Alan. 2006

机译：用转基因果蝇对临床上异质的阿尔茨海默氏病相关的早老素突变进行建模。
6. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. [O] . C. M. Eng, G. A. Ashley, T. S. Burgert, 1997

机译：法布里病：具有典型和变异表型的患者中的α-半乳糖苷酶A基因有35个突变。
7. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report [O] . 2012

机译：女性GLA基因内含突变的经典Anderson-Fabry疾病表型：病例报告

Commentary on 'Novel Insights from Clinical Practice p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease'

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