A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome

A patient with a female phenotype, 46,XY karyotype, and a diagnosis of complete androgen insensitivity syndrome (CAIS) was examined. Her mother and three 46,XX sisters were also included in the study. Sequence analysis of the androgen receptor gene (AR) revealed a novel A2933 insertion that alters t...

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Detalles Bibliográficos
Autores principales: Turek-Plewa, J., Starzyk, J. B., Trzeciak, W. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Human Genetics • Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617858/
https://www.ncbi.nlm.nih.gov/pubmed/25997614
http://dx.doi.org/10.1007/s13353-015-0288-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617858/
https://www.ncbi.nlm.nih.gov/pubmed/25997614
http://dx.doi.org/10.1007/s13353-015-0288-3

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