Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen

INTRODUCTION: Autosomal recessive renal tubular dysgenesis (ARRTD) caused by inactivation mutations in AGT, REN, ACE, and AGTR is a very rare but fatal disorder with an unknown prevalence. METHODS: We report 6 Taiwanese individuals with ARRTD from 6 unrelated families diagnosed by renal histology. C...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Kidney Int Rep
Asıl Yazarlar: Tseng, Min-Hua, Huang, Shih-Ming, Huang, Jing-Long, Fan, Wen-Lang, Konrad, Martin, Shaw, Steven W., Lien, Reyin, Chien, Hui-Ping, Ding, Jhao-Jhuang, Wu, Tai-Wei, Tsai, Jeng-Daw, Tian, Ya-Chung, Lee, Hwei-Jen, Cheng, Po-Jen, Hsu, Jen-Fu, Lin, Shih-Hua
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2020
Konular:
Clinical Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7609895/
https://ncbi.nlm.nih.gov/pubmed/33163725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ekir.2020.08.011
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