Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.

We aim to correlate point mutations in the androgen receptor gene with receptor phenotypes and with clinical phenotypes of androgen resistance. In two families, the external genitalia were predominantly female at birth, and sex-of-rearing has been female. Their androgen receptor mutation changed arg...

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Bibliografiske detaljer
Udgivet i:J Clin Invest
Main Authors: Beitel, L K, Kazemi-Esfarjani, P, Kaufman, M, Lumbroso, R, DiGeorge, A M, Killinger, D W, Trifiro, M A, Pinsky, L
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296129/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8040309/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117368
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