Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine

To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS‐causing mutations.

Detalles Bibliográficos
Autores principales: Sirokha, Dmytro, Gorodna, Olexandra, Lozhko, Dmytro, Livshyts, Ganna, Zelinska, Nataliya, Livshits, Liudmyla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813113/
https://www.ncbi.nlm.nih.gov/pubmed/33505695
http://dx.doi.org/10.1002/ccr3.3566
Descripción
Sumario:To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS‐causing mutations.

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