Article
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
Human molecular genetics - 1 Feb 1996
Bevan C L, Brown B B, Davies H R, Evans B A, Hughes I A, Patterson M N
Abstract excerpt
Partial androgen insensitivity syndrome (PAIS) is caused by defects in the androgen receptor gene and presents with a wide range of undervirilization phenotypes. We studied the consequences of six androgen receptor ligand-binding domain mutations on receptor function in transfected cells. The mut...
Topics
- Amino Acid Sequence
- Androgens
- Cell Line
- Disorders of Sex Development
- Endocrine System Diseases
- HeLa Cells
- Humans
- Molecular Sequence Data
- Mutation
- Receptors, Androgen
- Sequence Homology, Amino Acid
- Transcriptional Activation