Article
Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity.
Proceedings of the National Academy of Sciences of the United States of America - 1 Oct 1990
Ris-Stalpers C, Kuiper G G, Faber P W, Schweikert H U, van Rooij H C, Zegers N D, Hodgins M B, Degenhart H J, Trapman J, Brinkmann A O
Abstract excerpt
Androgen insensitivity is a disorder in which the correct androgen response in an androgen target cell is impaired. The clinical symptoms of this X chromosome-linked syndrome are presumed to be caused by mutations in the androgen receptor gene. We report a G----T mutation in the splice donor site of intron 4 of the androgen receptor gene of a 46,XY subject lacking detectable androgen binding to the receptor and...
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