Article
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
The Journal of clinical endocrinology and metabolism - 1 Sept 1998
Zhang P, Jobert A S, Couvineau A, Silve C
Abstract excerpt
We describe a patient with Blomstrand chondrodysplasia, a lethal genetic disorder characterized by extremely advanced endochondral bone maturation, in whom a homozygous missense mutation is present in the gene coding for the PTH/PTHrP receptor that leads to the substitution of a proline for a leu...
Topics
- Animals
- Binding, Competitive
- COS Cells
- Consanguinity
- Cyclic AMP
- Female
- Homozygote
- Humans
- Infant, Newborn
- Mutation
- Osteochondrodysplasias
- Parathyroid Hormone
- Parathyroid Hormone-Related Protein
- Proteins
- Receptor, Parathyroid Hormone, Type 1
- Receptors, Parathyroid Hormone
- Recombinant Fusion Proteins
- Transfection