Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.-论文-万方医学网

作者： Gemma,Bullich ^[1] ; Daniel,Trujillano ^[2] ; Sheila,Santín ^[3] ; Stephan,Ossowski ^[4] ; Santiago,Mendizábal ^[5] ; Gloria,Fraga ^[6] ; Álvaro,Madrid ^[7] ; Gema,Ariceta ^[7] ; José,Ballarín ^[8] ; Roser,Torra ^[8] ; Xavier,Estivill ^[2] ; Elisabet,Ars ^[1]

作者单位： 1] Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain [2] Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. ^[1] 1] Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain [2] Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain [3] Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain [4] CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Catalonia, Spain. ^[2] Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. ^[3] 1] Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain [2] Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain. ^[4] Pediatric Nephrology Department, Hospital Universitario La Fe, Valencia, Spain. ^[5] Pediatric Nephrology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain. ^[6] Pediatric Nephrology Department, Hospital Vall d'Hebron, Barcelona, Spain. ^[7] Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. ^[8]

主题词辅肌动蛋白(Actinin);青少年(Adolescent);成年人(Adult);自身抗原(Autoantigens);儿童(Child);儿童, 学龄前(Child, Preschool);胶原Ⅳ型(Collagen Type IV);女(雌)性(Female);基因表达(Gene Expression);遗传异质性(Genetic Heterogeneity);基因型(Genotype);肾小球硬化症, 局灶节段性(Glomerulosclerosis, Focal Segmental);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);婴儿(Infant);男(雄)性(Male);微丝蛋白质类(Microfilament Proteins);中年人(Middle Aged);突变(Mutation);肾病综合征(Nephrotic Syndrome);表型(Phenotype);疾病严重程度指数(Severity of Illness Index);TRPC阳离子通道(TRPC Cation Channels)

DOI 10.1038/ejhg.2014.252

PMID 25407002

发布时间 2022-03-10

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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

European journal of human genetics

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European journal of human genetics

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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

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