Article
Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor.
Hormone research - 1 Jan 2002
Zenteno Juan Carlos, Chávez Bertha, Vilchis Felipe, Kofman-Alfaro Susana
Abstract excerpt
BACKGROUND/AIMS: Mutations in the androgen receptor (AR) gene result in an X-linked recessive form of male pseudohermaphroditism known as the androgen-insensitivity syndrome (AIS). The alterations most frequently observed are missense or nonsense point mutations in exons 4-8 of the AR gene that affect the steroid-binding domain of the receptor in subjects with various degrees of androgen resistance. Despite the...
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