A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open readin...

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Detalhes bibliográficos

Principais autores:	Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2016-01-01
coleção:	PLoS ONE
Acesso em linha:	http://europepmc.org/articles/PMC4844194?pdf=render
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