机构:[1]Nephrology Department, Children’s Hospital Affiliated to Capital Institute of Pediatrics, No 2 Yabao Road, Chaoyang District, Beijing, 100020, China
Conclusions: Clinical and genetic analysis is valuable for the diagnosis of Dent’s disease. A novel mutation in the CLCN5 gene was identified in our patient.
基金:
Funding: This work was partially supported by a grant from the Beijing Municipal Science and Technology Commission (Z131100006813012). Ethical approval: The Ethical Committee of Children's Hospital affiliated to Capital Institute of Pediatrics approved the project, and informed consent was obtained from the patient's family members. Competing interest: None declared. Contributors: Ji LN and Chen CY designed the study. All authors contributed to the intellectual content and approved the final version of the paper.
第一作者机构:[1]Nephrology Department, Children’s Hospital Affiliated to Capital Institute of Pediatrics, No 2 Yabao Road, Chaoyang District, Beijing, 100020, China
推荐引用方式(GB/T 7714):
Ji L.-N,Chen C.-Y,Wang J.-J,et al.A novel CLCN5 mutation in a Chinese boy with Dent’s disease[J].WORLD JOURNAL OF PEDIATRICS.2014,10(3):275-277.doi:10.1007/s12519-014-0504-y.
APA:
Ji, L.-N,Chen, C.-Y,Wang, J.-J&Cao, L.(2014).A novel CLCN5 mutation in a Chinese boy with Dent’s disease.WORLD JOURNAL OF PEDIATRICS,10,(3)
MLA:
Ji, L.-N,et al."A novel CLCN5 mutation in a Chinese boy with Dent’s disease".WORLD JOURNAL OF PEDIATRICS 10..3(2014):275-277