Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation

被引：0
作者：
Liangliang Li
Zhi Yi
Hongmin Xi
Lili Ma
Hui Shao
Wenwen Wang
Hong Pan
Miaomiao Li
Hong Jiang
机构：
[1] The Affiliated Hospital of Qingdao University,Neonatal Department
[2] The Affiliated Hospital of Qingdao University,Neurological and Endocrine Department of Pediatric Center
[3] Intensive Care Unit,Department of Central Laboratory
[4] The Affiliated Hospital of Qingdao University,Medical Genetic Department
[5] Peking University First Hospital,undefined
[6] The Affiliated Hospital of Qingdao University,undefined
来源：
Italian Journal of Pediatrics | / 45卷
关键词：
Congenital nephrotic syndrome; 22q11.2 duplication syndrome; NPHS1; Minigene assay;
D O I：
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