Article
Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Apr 1994
Berg M A, Peoples R, Pérez-Jurado L, Guevara-Aguirre J, Rosenbloom A L, Laron Z, Milner R D, Francke U
Abstract excerpt
Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inherited GH receptor deficiency (GHRD; Laron syndrome) from five continents. All the mutations are located in the extracellular domain of the receptor and are predicted to cause gross structural abnormalities and non-functional receptor molecules. They include three nucleotide changes in the coding region causing...
Topics
- Base Sequence
- Ecuador
- Exons
- Haplotypes
- Humans
- Jews
- Molecular Sequence Data
- Mutation
- Phenotype
- Receptors, Somatotropin