Article
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
Pediatric research - 1 Aug 1994
Ris-Stalpers C, Hoogenboezem T, Sleddens H F, Verleun-Mooijman M C, Degenhart H J, Drop S L, Halley D J, Oosterwijk J C, Hodgins M B, Trapman J
Abstract excerpt
Androgen insensitivity syndrome (AIS) is an X-linked disorder in which defects in the androgen receptor gene have prevented the normal development of both internal and external male structures in 46,XY individuals. This survey reports the analysis of 11 AIS subjects. The androgen receptor gene of...
Topics
- Base Sequence
- Child
- DNA
- Disorders of Sex Development
- Drug Resistance
- Female
- Fibroblasts
- Genetic Carrier Screening
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree