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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861889/
https://www.ncbi.nlm.nih.gov/pubmed/31671693
http://dx.doi.org/10.3390/ijms20215418

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861889/
https://www.ncbi.nlm.nih.gov/pubmed/31671693
http://dx.doi.org/10.3390/ijms20215418

Ejemplares similares