Article
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib.
The Journal of clinical endocrinology and metabolism - 1 Jul 1996
Fukumoto S, Suzawa M, Takeuchi Y, Kodama Y, Nakayama K, Ogata E, Matsumoto T, Fujita T
Abstract excerpt
To clarify the mechanism of resistance to PTH in patients with pseudohypoparathyroidism (PHP) type Ib, the complementary DNA (cDNA) for PTH/PTH-related protein (PTHrP) receptor was analyzed in skin fibroblasts from three patients with PHP Ib and compared with those from a patient with PHP Ia and...
Topics
- Adolescent
- Adult
- Blotting, Northern
- Blotting, Western
- Cyclic AMP
- DNA, Complementary
- Female
- Fibroblasts
- GTP-Binding Proteins
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational