Article
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.
The Journal of steroid biochemistry and molecular biology - 1 Mar 1993
Lobaccaro J M, Lumbroso S, Berta P, Chaussain J L, Sultan C
Abstract excerpt
In a French child with complete androgen insensitivity syndrome and negative receptor-binding, no gross deletion has been found. Using single-strand conformation polymorphism assay, a useful screening method for rapid detection of DNA sequence alterations, and direct DNA sequencing, a G-T nucleot...
Topics
- Amino Acid Sequence
- Androgens
- Base Sequence
- Codon
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Disorders of Sex Development
- Drug Tolerance
- Exons
- France
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length