Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development

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,...

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Bibliographic Details

Published in:	Sexual development Vol. 3; no. 5; p. 237
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2009
Subjects:	Androgen-Insensitivity Syndrome - genetics Child Child, Preschool Disorders of Sex Development - genetics Humans Indonesia Male Mutation - genetics Receptors, Androgen - genetics Indonesia
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