A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814AG Mutation

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Bibliographic Details
Published in:BioMed research international 2022-07, Vol.2022
Main Authors: Zang, Li, Gong, Yuping, Li, Yijun, Dou, Jingtao, Lyu, Zhaohui, Su, Xiaoqing, Zhang, Yawei, Mu, Yiming
Format: Article
Language:English
Subjects:
Diabetes insipidus
Diabetic nephropathies
Diagnosis
Gene mutations
Genetic aspects
Health aspects
Medical research
Medicine, Experimental
Neurotransmitter receptors
Phenotype
Women
X chromosome inactivation
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ISSN:2314-6133
DOI:10.1155/2022/7073158