Research Article
[Retracted] 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
Figure 3
Sequence analysis of the 2nd and 3rd exons in AVPR2 gene. (a, b) sequencing in the 814th base of 2nd exon, A was substitute of G which resulted a Met 272 Val (GAT-GGT) amino acid substitution. A was hemizygous mutation in the male subjects, B was heterozygous mutation in the female subjects. (c, d) sequencing in the 927th base of 3rd exon, A was substitute of G which suggested a silent mutation Leu 309 Leu. C was hemizygous mutation in the male subjects; D was heterozygous mutation in the female subjects.
| (a) |
| (b) |
| (c) |
| (d) |