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Balkan Journal of Medical Genetics
Volume 18 (2015): Issue 1 (June 2015)
Open Access
Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion
Ozlem Giray Bozkaya
Ozlem Giray Bozkaya
,
E. Ataman
E. Ataman
,
C. Randa
C. Randa
,
D. Onur Cura
D. Onur Cura
,
S. Gürsoy
S. Gürsoy
,
O. Aksel
O. Aksel
and
A. Ulgenalp
A. Ulgenalp
| Dec 30, 2015
Balkan Journal of Medical Genetics
Volume 18 (2015): Issue 1 (June 2015)
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Published Online:
Dec 30, 2015
Page range:
65 - 70
DOI:
https://doi.org/10.1515/bjmg-2015-0007
Keywords
CHARGE syndrome
,
Coloboma
,
CHD7 gene
,
Choanal atresia
,
Double tandem base substitution
© Balkan Journal of Medical Genetics
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.