Article
Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
Molecular endocrinology (Baltimore, Md.) - 1 Jan 1993
Kazemi-Esfarjani P, Beitel L K, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L
Abstract excerpt
We have identified two different single nucleotide missense substitutions at valine-865 in exon 7 of the human androgen receptor (AR) gene in two families with androgen resistance. Val-->methionine is associated with the complete syndrome; Val-->leucine is associated with the partial form. In genital skin fibroblasts, both alterations yield a normal maximum binding capacity, but an increased apparent equilibrium...
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