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Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy

ACTN4, a gene which codes for the protein α-actinin-4, is critical for the maintenance of the renal filtration barrier. It is well known that ACTN4 mutations can lead to kidney dysfunction, such as familial focal segmental glomerulosclerosis (FSGS), a common cause of primary nephrotic syndrome (PNS)...

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Detalles Bibliográficos
Autores principales: Meng, Lingzhang, Cao, Shan, Lin, Na, Zhao, Jingjie, Cai, Xulong, Liang, Yonghua, Huang, Ken, Lin, Mali, Chen, Xiajing, Li, Dongming, Wang, Junli, Yang, Lijuan, Wei, Aibo, Li, Genliang, Lu, Qingmei, Guo, Yuxiu, Wei, Qiuju, Tan, Junhua, Huang, Meiying, Huang, Yuming, Wang, Jie, Liu, Yunguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942772/
https://www.ncbi.nlm.nih.gov/pubmed/31930129
http://dx.doi.org/10.1155/2019/5949485