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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7609895/
https://www.ncbi.nlm.nih.gov/pubmed/33163725
http://dx.doi.org/10.1016/j.ekir.2020.08.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7609895/
https://www.ncbi.nlm.nih.gov/pubmed/33163725
http://dx.doi.org/10.1016/j.ekir.2020.08.011

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