Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine. Issue 1 (29th November 2020)

• Record Type: Journal Article
• Authors: Sirokha, Dmytro; Gorodna, Olexandra; Lozhko, Dmytro; Livshyts, Ganna; Zelinska, Nataliya; Livshits, Liudmyla
• Is Part Of: Clinical case reports. Volume 9:Issue 1(2021)
• Page Start: 499
• Page End: 505
• Publication Date: 2020-11-29
• Subjects: androgen insensitivity syndrome -- androgen receptor -- bioinformatics -- ligand binding domain -- pathogenic mutation; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.3566
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: 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. Abstract : 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.