Human Mutation

7 Articles

• C112R, W323S, N317K Mutations in the Vasopressin V2 Receptor Gene in Patients With Nephrogenic Diabetes Insipidus
• Compound Deletion of the rhoGAP C1 and V2 Vasopressin Receptor Genes in a Patient with Nephrogenic Diabetes Insipidus
• Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
• Mutational Analyses of AVPR2 Gene in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus: Two Recurrent Mutations, R137H and V278, Caused by the Hypermutability at CpG D
• Nephrogenic Diabetes Insipidus Caused By Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
• Two Novel Types of Contiguous Gene Deletion of the AVPR2 and ARHGAP4 Genes in Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus
• V2 Vasopressin Receptor Dysfunction in Nephrogenic Diabetes Insipidus Caused By Different Molecular Mechanisms