Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus

Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. We utilized a multicenter strategy to investigate the genotype and phenotype in a cohort of Chinese children clinically diagnosed with NDI from 2014 to 2019. Ten boys fro...

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Bibliographic Details
Main Authors: Panli Liao, Tianchao Xiang, Hongxia Li, Ye Fang, Xiaoyan Fang, Zhiqing Zhang, Qi Cao, Yihui Zhai, Jing Chen, Linan Xu, Jialu Liu, Xiaoshan Tang, Xiaorong Liu, Xiaowen Wang, Jiangwei Luan, Qian Shen, Lizhi Chen, Xiaoyun Jiang, Duan Ma, Hong Xu, Jia Rao
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Pediatrics
Subjects:
nephrogenic diabetes insipidus
AVPR2
AQP2
protein structure
genomics
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.566524/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.566524/full

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