Article
Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype.
Clinical endocrinology - 1 Aug 2009
Tadokoro Rieko, Bunch Trevor, Schwabe John W R, Hughes Ieuan A, Murphy Jane C
Abstract excerpt
OBJECTIVE: Androgen insensitivity syndrome (AIS) is associated with mutations throughout the androgen receptor (AR) gene. Different mutations at the same codon have been identified in individuals with various phenotypes suggesting the nature of the codon substituted may influence the degree of AIS. We investigated if phenotype could be predicted by comparing the functionality of AR mutations with those at the...
Topics
- Adolescent
- Amino Acid Sequence
- Androgen-Insensitivity Syndrome
- Androgens
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation, Missense
- Phenotype
- Protein Binding
- Receptors, Androgen