Article
Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2009
Elfferich P, Juniarto A Z, Dubbink H J, van Royen M E, Molier M, Hoogerbrugge J, Houtsmuller A B, Trapman J, Santosa A, de Jong F H, Drop S L S, Faradz S M H, Bruggenwirth H, Brinkmann A O
Abstract excerpt
Mutations in the androgen receptor (AR) gene, rendering the AR protein partially or completely inactive, cause androgen insensitivity syndrome, which is a form of a 46,XY disorder of sex development (DSD). We present 3 novel AR variants found in a cohort of Indonesian DSD patients: p.I603N, p.P671S, and p.Q738R. The aim of this study was to determine the possible pathogenic nature of these newly found...
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