A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus
Author:
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://www.degruyter.com/document/doi/10.1515/JPEM.2011.302/pdf
Reference13 articles.
1. Molecular Biology of Hereditary Diabetes Insipidus
2. AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance
3. Clinical Presentation and Follow-Up of 30 Patients with Congenital Nephrogenic Diabetes Insipidus
4. Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus
5. Human non-synonymous SNPs: server and survey
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2. Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus;Medicine;2019-10
3. Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families;Journal of Pediatric Endocrinology and Metabolism;2019-08-27
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