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Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion Cover

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Balkan Journal of Medical Genetics
Volume 18 (2015): Issue 1 (June 2015)
By: ,  ,  ,  ,  ,   and    
Open Access
|Dec 2015
References

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DOI: https://doi.org/10.1515/bjmg-2015-0007 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 65 - 70
Published on: Dec 30, 2015
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
CHARGE syndrome,
Coloboma,
CHD7 gene,
Choanal atresia,
Double tandem base substitution
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2015 Ozlem Giray Bozkaya, E. Ataman, C. Randa, D. Onur Cura, S. Gürsoy, O. Aksel, A. Ulgenalp, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Volume 18 (2015): Issue 1 (June 2015)
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