Article
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib.
Molecular and cellular endocrinology - 25 Jun 1998
Fukumoto S, Suzawa M, Kikuchi T, Matsumoto T, Kato S, Fujita T
Abstract excerpt
Pseudohypoparathyroidism (PHP) is a heterogeneous disease complex characterized by resistance to parathyroid hormone (PTH). PHP type Ib has been thought to be caused by abnormalities in PTH/PTH-related protein (PTHrP) receptor. However, previous studies have shown no mutation in the coding region...
Topics
- 5' Untranslated Regions
- Animals
- Base Sequence
- Cell Line
- Cloning, Molecular
- Exons
- Gene Expression Regulation
- Genomic Library
- Humans
- Kidney
- Molecular Sequence Data
- Mutation
- Opossums
- Organ Specificity
- Promoter Regions, Genetic
