Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics

We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report three hitherto undisclosed causes of the disease. RNA-Seq, Real-timePCR, Western immunoblotting, and immunohistochemistry were performed with the aim of characterizing the disease-causing variants. In case No.1, we...

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Pubblicato in:Int J Mol Sci
Autori principali: Malcher, Agnieszka, Jedrzejczak, Piotr, Stokowy, Tomasz, Monem, Soroosh, Nowicka-Bauer, Karolina, Zimna, Agnieszka, Czyzyk, Adam, Maciejewska-Jeske, Marzena, Meczekalski, Blazej, Bednarek-Rajewska, Katarzyna, Wozniak, Aldona, Rozwadowska, Natalia, Kurpisz, Maciej
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6861889/
https://ncbi.nlm.nih.gov/pubmed/31671693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20215418
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