机译: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
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Hosp Senhora Oliveira Dept Cardiol Reference Ctr Lysosomal Storage Disorders Guimaraes Portugal;
Univ Lisbon Inst Med Mol Joao Lobo Antunes Fac Med Lisbon Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Algarve Biomed Ctr Faro Portugal;
Algarve Biomed Ctr Faro Portugal;
Algarve Biomed Ctr Faro Portugal;
Ctr Hosp &
Univ Algarve Cardiol Dept Rua Leao Penedo PT-8000386 Faro Portugal;
Fabry disease; Classic phenotype; Missense mutation; GLA gene; p; G360R;
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”
机译:女性GLA基因内含突变的经典Anderson-Fabry疾病表型:病例报告
机译:GLA基因的D313Y突变可能是法布里病的致病性
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
机译:遗传性血细胞化突变(C282Y和H63D)在家族性阿尔茨海默病和帕金森病中的涉及及其通过流行病致病选择所称的起源
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。
机译:女性GLA基因内含突变的经典Anderson-Fabry疾病表型:病例报告