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Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in <25% of patients with a diagnosis of PAIS. We performed extensive molecular...

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Bibliografski detalji
Izdano u:Sci Rep
Glavni autori: Ono, Hiroyuki, Saitsu, Hirotomo, Horikawa, Reiko, Nakashima, Shinichi, Ohkubo, Yumiko, Yanagi, Kumiko, Nakabayashi, Kazuhiko, Fukami, Maki, Fujisawa, Yasuko, Ogata, Tsutomu
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2018
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5797100/
https://ncbi.nlm.nih.gov/pubmed/29396419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-20691-9
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