Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mech...

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Detalles Bibliográficos
Autores principales: Känsäkoski, Johanna, Jääskeläinen, Jarmo, Jääskeläinen, Tiina, Tommiska, Johanna, Saarinen, Lilli, Lehtonen, Rainer, Hautaniemi, Sampsa, Frilander, Mikko J., Palvimo, Jorma J., Toppari, Jorma, Raivio, Taneli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016895/
https://www.ncbi.nlm.nih.gov/pubmed/27609317
http://dx.doi.org/10.1038/srep32819

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