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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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Опубликовано в: :Case Rep Genet
Главные авторы: Nguyen, Thi Kim Lien, Pham, Van Dem, Nguyen, Thu Huong, Pham, Trung Kien, Nguyen, Thi Quynh Huong, Nguyen, Huy Hoang
Формат: Artigo
Язык:Inglês
Опубликовано: Hindawi 2017
Предметы:
Online-ссылка: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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