Associated Papers
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family.
Guo S et al.
Frontiers in Pediatrics, 2021
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr108Met Variant of Aquaporin 2.
Ma L et al.
Frontiers in Pediatrics, 2020
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.
International Journal of Molecular Sciences, 2018
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
[Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
Gu F et al.
Zhonghua Yi Xue Za Zhi, 2002
Select a paper to view details