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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Detalles Bibliográficos
Autores principales: Ono, Hiroyuki, Saitsu, Hirotomo, Horikawa, Reiko, Nakashima, Shinichi, Ohkubo, Yumiko, Yanagi, Kumiko, Nakabayashi, Kazuhiko, Fukami, Maki, Fujisawa, Yasuko, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797100/
https://www.ncbi.nlm.nih.gov/pubmed/29396419
http://dx.doi.org/10.1038/s41598-018-20691-9

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