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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha: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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