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 814a > g mutation

HIGHLIGHTS

• who: Li Zang et al. from the Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing, China have published the research: 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 814A > G Mutation, in the Journal: BioMed Research International of 12/07/2022
• what: A novel AVPR2 mutation (814A>G) in a Chinese family with CNDI has been identified in this study.
• how: The pedigree of the Chinese family described in . . .
  

   

  

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