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A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient Cover

A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
By: A Türkyılmaz,  O Ünver,  G Ekinci and  D Türkdoğan  
Open Access
|Dec 2019

Authors

A Türkyılmaz

ayberkturkyilmaz@gmail.com

Department of Medical Genetics, Marmara University School of Medicine, İstanbul, Turkey

O Ünver

Department of Pediatric Neurology, Marmara University School of Medicine, İstanbul, Turkey

G Ekinci

Department of Neuroradiology, Marmara University School of Medicine, İstanbul, Turkey

D Türkdoğan

Department of Pediatric Neurology, Marmara University School of Medicine, İstanbul, Turkey
DOI: https://doi.org/10.2478/bjmg-2019-0019 | Journal eISSN: 2199-5761
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Language: English
Page range: 89 - 92
Published on: Dec 21, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
cDNA sequencing,
Exon skipping,
Leuko-encephalopathy,
gene,
Splice-site mutation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 A Türkyılmaz, O Ünver, G Ekinci, D Türkdoğan, 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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