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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: Känsäkoski, Johanna, Jääskeläinen, Jarmo, Jääskeläinen, Tiina, Tommiska, Johanna, Saarinen, Lilli, Lehtonen, Rainer, Hautaniemi, Sampsa, Frilander, Mikko J., Palvimo, Jorma J., Toppari, Jorma, Raivio, Taneli
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Article
Sarrera elektronikoa: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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