Novel GAA mutations in patients with Pompe disease.-论文-万方医学网

第一作者： Lauro Thiago,Turaça

第一单位： Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.

作者： Lauro Thiago,Turaça ^[1] ; Douglas Oliveira Soares,de Faria ^[1] ; Sandra Obikawa,Kyosen ^[2] ; Valber Dias,Teixeira ^[1] ; Fabiana Louise,Motta ^[1] ; Juliana Gilbert,Pessoa ^[1] ; Marina,Rodrigues E Silva ^[1] ; Sandro Soares,de Almeida ^[1] ; Vânia,D'Almeida ^[3] ; Maria Verônica,Munoz Rojas ^[4] ; Ana Maria,Martins ^[2] ; João Bosco,Pesquero ^[5]

作者单位： Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil. ^[1] Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil. ^[2] Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil. ^[3] Personalized Genetic Health, Genzyme do Brasil-A Sanofi Company, São Paulo, SP, Brazil. ^[4] Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: jbpesquero@unifesp.br. ^[5]

主题词青少年(Adolescent);成年人(Adult);碱基序列(Base Sequence);巴西(Brazil);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);儿童(Child);儿童, 学龄前(Child, Preschool);密码子, 无义(Codon, Nonsense);早期诊断(Early Diagnosis);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);糖原(Glycogen);糖原贮积病Ⅱ型(Glycogen Storage Disease Type II);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);肌张力过低(Muscle Hypotonia);突变, 误义(Mutation, Missense);序列分析, DNA(Sequence Analysis, DNA);序列缺失(Sequence Deletion);青年人(Young Adult);α葡糖苷酶类(alpha-Glucosidases)

DOI 10.1016/j.gene.2015.02.023

PMID 25681614

发布时间 2022-12-07

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Novel GAA mutations in patients with Pompe disease.

Gene

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Novel GAA mutations in patients with Pompe disease.

Gene

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Gene

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