Article
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, Nagashima K, Morikawa A
Abstract excerpt
Most cases of congenital nephrogenic diabetes insipidus (NDI) are inherited in an X-linked manner, which is due to the mutations of the vasopressin type 2 receptor (V2R) gene. However, recent reports have presented female NDI patients with heterozygote V2R gene mutations. The mechanism of inherit...
Topics
- Adult
- Alleles
- Diabetes Insipidus, Nephrogenic
- Female
- Gene Expression Regulation
- Heterozygote
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, Vasopressin
- X Chromosome