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Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis

We has identified a founder homozygous E3_E4 del: 2870 bp deletion + 9 bp insertion in AGT gene encoding angiotensinogen responsible for autosomal recessive renal tubular dysgenesis (ARRTD) with nearly-fatal outcome. High-dose hydrocortisone therapy successfully rescued one patient with an increased...

詳細記述

保存先:
書誌詳細
出版年:Cells
主要な著者: Tseng, Min-Hua, Huang, Shih-Ming, Konrad, Martin, Huang, Jing-Long, Shaw, Steven W., Tian, Ya-Chung, Chueh, Ho-Yen, Fan, Wen-Lang, Wu, Tai-Wei, Ding, Jhao-Jhuang, Chiang, Ming-Chou, Lin, Shih-Hua
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8065467/
https://ncbi.nlm.nih.gov/pubmed/33916187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells10040782
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