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
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author Sirokha, Dmytro
Gorodna, Olexandra
Lozhko, Dmytro
Livshyts, Ganna
Zelinska, Nataliya
Livshits, Liudmyla
author_facet Sirokha, Dmytro
Gorodna, Olexandra
Lozhko, Dmytro
Livshyts, Ganna
Zelinska, Nataliya
Livshits, Liudmyla
author_sort Sirokha, Dmytro
collection PubMed
description 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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spelling pubmed-78131132021-01-26 Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine Sirokha, Dmytro Gorodna, Olexandra Lozhko, Dmytro Livshyts, Ganna Zelinska, Nataliya Livshits, Liudmyla Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-11-29 /pmc/articles/PMC7813113/ /pubmed/33505695 http://dx.doi.org/10.1002/ccr3.3566 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Sirokha, Dmytro
Gorodna, Olexandra
Lozhko, Dmytro
Livshyts, Ganna
Zelinska, Nataliya
Livshits, Liudmyla
Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
title Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
title_full Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
title_fullStr Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
title_full_unstemmed Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
title_short Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
title_sort novel missense mutation in ligand binding domain of ar gene identified in patient with androgen insensitivity syndrome from ukraine
topic Case Reports
url 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
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