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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Case Rep Genet
Hauptverfasser: Nguyen, Thi Kim Lien, Pham, Van Dem, Nguyen, Thu Huong, Pham, Trung Kien, Nguyen, Thi Quynh Huong, Nguyen, Huy Hoang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi 2017
Schlagworte:
Online Zugang: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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