Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.-论文-万方医学网

作者： Alessandra,Pelle ^[1] ; Alessandra,Cuccurullo ^[2] ; Cecilia,Mancini ^[3] ; Regina,Sebastiano ^[4] ; Giovanni,Stallone ^[5] ; Susanna,Negrisolo ^[4] ; Elisa,Benetti ^[6] ; Licia,Peruzzi ^[7] ; Michele,Petrarulo ^[7] ; Mario,De Marchi ^[8] ; Martino,Marangella ^[9] ; Antonio,Amoroso ^[3] ; Daniela,Giachino ^[4] ; Giorgia,Mandrile ^[10]

作者单位： Department of Clinical and Biological Sciences, University of Torino, San Luigi University Hospital, Regione Gonzole 10, 10040, Orbassano, TO, Italy. alessandraelisapelle@gmail.com. ^[1] Medical Genetics Unit, San Luigi University Hospital, Orbassano, Italy. alessandraelisapelle@gmail.com. ^[2] Department of Clinical and Biological Sciences, University of Torino, San Luigi University Hospital, Regione Gonzole 10, 10040, Orbassano, TO, Italy. ^[3] Medical Genetics Unit, San Luigi University Hospital, Orbassano, Italy. ^[4] Department of Medical Sciences, Città della Salute e della Scienza, University of Torino, Turin, Italy. ^[5] Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy. ^[6] Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padova, Padua, Italy. ^[7] Nephrology Dialysis Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Turin, Italy. ^[8] S.C. Laboratorio Centrale, A. O. Ordine Mauriziano, Turin, Italy. ^[9] Fondazione Scientifica, A. O. Ordine Mauriziano, Turin, Italy. ^[10]

主题词青少年(Adolescent);成年人(Adult);醇氧化还原酶类(Alcohol Oxidoreductases);动物(Animals);COS细胞(COS Cells);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);外显子(Exons);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);HEK293细胞(HEK293 Cells);杂合子(Heterozygote);纯合子(Homozygote);人类(Humans);高草酸尿症, 原发性(Hyperoxaluria, Primary);内含子(Introns);意大利(Italy);肾(Kidney);男(雄)性(Male);突变(Mutation);氧-酸裂合酶类(Oxo-Acid-Lyases);表型(Phenotype);试验预期值(Predictive Value of Tests);启动区, 遗传(Promoter Regions, Genetic);转氨酶类(Transaminases);转染(Transfection);青年人(Young Adult)

DOI 10.1007/s40620-016-0287-4

PMID 26946417

发布时间 2019-12-10

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Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

Journal of nephrology

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Journal of nephrology

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Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

Journal of nephrology

相似文献

Journal of nephrology

相关期刊

检索历史清除