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

Li, Liangliang; Yi, Zhi; Xi, Hongmin; Ma, Lili; Shao, Hui; Wang, Wenwen; Pan, Hong; Li, Miaomiao; Jiang, Hong

doi:10.1186/s13052-019-0690-2

Italian Journal of Pediatrics

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Last updated: Fri, 17 May 2024 11:35:06 Z

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

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ISSN: 1824-7288

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