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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Publicado no:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5016895/
https://ncbi.nlm.nih.gov/pubmed/27609317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep32819
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