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de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita Cover

de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
By: SA Kocheva,  M Gjorgjievska,  K Martinova,  Z Antevska-Trajkova,  A Jovanovska and  D Plaseska-Karanfilska  
Open Access
|Jun 2022

Authors

SA Kocheva

dr.kocheva@gmail.com

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, North Macedonia

M Gjorgjievska

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

K Martinova

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, North Macedonia

Z Antevska-Trajkova

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, North Macedonia

A Jovanovska

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, North Macedonia

D Plaseska-Karanfilska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia
DOI: https://doi.org/10.2478/bjmg-2021-0027 | Journal eISSN: 2199-5761
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Language: English
Page range: 89 - 93
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
gene mutation,
Aplastic anemia,
DC
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2022 SA Kocheva, M Gjorgjievska, K Martinova, Z Antevska-Trajkova, A Jovanovska, D Plaseska-Karanfilska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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