Article
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.
The Journal of clinical endocrinology and metabolism - 1 May 1995
Schipani E, Weinstein L S, Bergwitz C, Iida-Klein A, Kong X F, Stuhrmann M, Kruse K, Whyte M P, Murray T, Schmidtke J
Abstract excerpt
Pseudohypoparathyroidism type Ib (PHP-Ib) is thought to be caused by a PTH/PTH-related peptide (PTHrP) receptor defect. To search for receptor mutations in genomic DNA from 17 PHP-Ib patients, three recently isolated human genomic DNA clones were further characterized by restriction enzyme mappin...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Exons
- Female
- Genes
- Humans
- Male
- Molecular Probes
- Molecular Sequence Data
- Mutation
- Parathyroid Hormone-Related Protein