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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Detalles Bibliográficos
Autores principales: Hornig, Nadine C., de Beaufort, Carine, Denzer, Friederike, Cools, Martine, Wabitsch, Martin, Ukat, Martin, Kulle, Alexandra E., Schweikert, Hans-Udo, Werner, Ralf, Hiort, Olaf, Audi, Laura, Siebert, Reiner, Ammerpohl, Ole, Holterhus, Paul-Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844194/
https://www.ncbi.nlm.nih.gov/pubmed/27110943
http://dx.doi.org/10.1371/journal.pone.0154158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844194/
https://www.ncbi.nlm.nih.gov/pubmed/27110943
http://dx.doi.org/10.1371/journal.pone.0154158

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