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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...

詳細記述

保存先:
書誌詳細
出版年:Case Rep Genet
主要な著者: Nguyen, Thi Kim Lien, Pham, Van Dem, Nguyen, Thu Huong, Pham, Trung Kien, Nguyen, Thi Quynh Huong, Nguyen, Huy Hoang
フォーマット: Artigo
言語:Inglês
出版事項: Hindawi 2017
主題:
オンライン・アクセス: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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