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Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant Cover

Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant

Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 1 (July 2023)
By: P Noveski,  T Plaseski,  M Dimitrovska and  D Plaseska-Karanfilska  
Open Access
|Jul 2023

Authors

P Noveski

Research Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia

T Plaseski

University Clinic of Endocrinology, Diabetes and Metabolic Disorders, Clinical Centre “Mother Teresa“, Skopje, Republic of North Macedonia

M Dimitrovska

University Clinic of Endocrinology, Diabetes and Metabolic Disorders, Clinical Centre “Mother Teresa“, Skopje, Republic of North Macedonia

D Plaseska-Karanfilska

dijana@manu.edu.mk

Research Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia
DOI: https://doi.org/10.2478/bjmg-2023-0012 | Journal eISSN: 2199-5761
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Language: English
Page range: 51 - 56
Published on: Jul 31, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Androgen insensitivity syndrome (AIS),
5′UTR variant,
upstream open reading frames (uORFs),
non-coding variation,
mosaicism
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 P Noveski, T Plaseski, M Dimitrovska, D Plaseska-Karanfilska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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