Article
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Apr 1998
Tanaka H, Komori S, Sakata K, Shima H, Koyama K
Abstract excerpt
We have previously demonstrated a substitutional mutation (glycine to alanine at position 820) of the androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS). We first examined whether the mutation could lead to a disorder in AR binding activity in in vitro expression experiments. In a luciferase assay, the effect of the mutant AR on a target's gene was definitely impaired....
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