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Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes ne...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Nguyen, Thi Kim Lien, Pham, Van Dem, Nguyen, Thu Huong, Pham, Trung Kien, Nguyen, Thi Quynh Huong, Nguyen, Huy Hoang
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5368377/
https://ncbi.nlm.nih.gov/pubmed/28392951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/2357282
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