Article
Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.
The Journal of clinical endocrinology and metabolism - 1 Jul 1998
Rosenbloom A L, Guevara-Aguirre J, Berg M A, Francke U
Abstract excerpt
Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause of partial resistance to GH, and there has been a recent demonstration of a dominant-negative effect of such a mutation in a mother and child. To examine the effect of heterozygosity in a large genet...
Topics
- Adolescent
- Adult
- Body Height
- Child
- Child, Preschool
- DNA, Recombinant
- Ecuador
- Family Health
- Female
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Mutation
- Receptors, Somatotropin
- Reference Values