Article
A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.
The Journal of clinical investigation - 1 May 1990
Marcelli M, Tilley W D, Wilson C M, Wilson J D, Griffin J E, McPhaul M J
Abstract excerpt
Mutations of the androgen receptor that impair the action of 5 alpha-dihydrotestosterone and testosterone result in abnormal male sexual development. The definition of the organization of the androgen receptor gene has permitted us to examine its structure in nine patients with androgen resistanc...
Topics
- Adolescent
- Androgens
- Animals
- Base Sequence
- Cell Line
- Codon
- DNA
- DNA Probes
- Dihydrotestosterone
- Drug Resistance
- Exons
- Female
- Feminization
- Fibroblasts
- Humans
- Male
- Molecular Sequence Data
- Mutation