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Article

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.

International journal of molecular sciences - 30 Oct 2019

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

Abstract excerpt

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 have identified a novel androgen receptor (AR) mutation (c.840delT) within the first exon in the N-terminal...

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Identifiers

PMID: 31671693
DOI: 10.3390/ijms20215418
PMCID: PMC6861889

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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