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

Autor: Sirokha D; Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine (IMBG) Kyiv Ukraine., Gorodna O; Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine (IMBG) Kyiv Ukraine., Lozhko D; Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine (IMBG) Kyiv Ukraine., Livshyts G; Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine (IMBG) Kyiv Ukraine., Zelinska N; Ukrainian Scientific and Practical Center for Endocrine Surgery, Transplantation of Endocrine Organs and Tissues Ministry of Health of Ukraine Kyiv Ukraine., Livshits L; Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine (IMBG) Kyiv Ukraine.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2020 Nov 29; Vol. 9 (1), pp. 499-505. Date of Electronic Publication: 2020 Nov 29 (Print Publication: 2021).
DOI: 10.1002/ccr3.3566
Abstrakt: 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.
Competing Interests: The authors have no conflicts of interest to declare.
(© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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