A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient
By: A Türkyılmaz, O Ünver, G Ekinci and D Türkdoğan
DOI: https://doi.org/10.2478/bjmg-2019-0019 | Journal eISSN: 2199-5761
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
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© 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.