Article
Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)
European journal of endocrinology - 1 Apr 1994
Lumbroso S, Lobaccaro J M, Belon C, Amram S, Bachelard B, Garandeau P, Sultan C
Abstract excerpt
In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. Direct sequencing showed a G-A point mutation at position 2818 of exon 7, which was responsible for an arginine-histidine substitution at position 840 of the androgen receptor. I...
Topics
- Base Sequence
- DNA
- DNA Primers
- Disorders of Sex Development
- Exons
- Female
- Fetal Diseases
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Prenatal Diagnosis
- Receptors, Androgen