Article
Diverse growth hormone receptor gene mutations in Laron syndrome.
American journal of human genetics - 1 May 1993
Berg M A, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo S P, Francke U
Abstract excerpt
To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-hormone insensitivity syndrome), we analyzed the growth-hormone receptor (GHR) genes of seven unrelated affected individuals from the United States, South America, Europe, and Africa. We amplified...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Dwarfism, Pituitary
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Frameshift Mutation
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction