Have a personal or library account? Click to login
Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants Cover

Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

Balkan Journal of Medical Genetics
Volume 20 (2017): Issue 1 (June 2017)
By: SD Ulusal,  H Gürkan,  E Atlı,  SA Özal,  M Çiftdemir,  H Tozkır,  Y Karal,  H Güçlü,  D Eker and  I Görker  
Open Access
|Jun 2017

Authors

SD Ulusal

selmaulusal@trakya.edu.tr

Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey

H Gürkan

Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey

E Atlı

Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey

SA Özal

Department of Opthalmology, Trakya University Faculty of Medicine, Edirne, Turkey

M Çiftdemir

Department of Orthopedics and Traumatology, Trakya University Faculty of Medicine, Edirne, Turkey

H Tozkır

Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey

Y Karal

Department of Pediatric Neurology, Trakya University Faculty of Medicine, Edirne, Turkey

H Güçlü

Department of Opthalmology, Trakya University Faculty of Medicine, Edirne, Turkey

D Eker

Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey

I Görker

Department of Child and Adolescent Psychiatry, Trakya University Faculty of Medicine, Edirne, Turkey
DOI: https://doi.org/10.1515/bjmg-2017-0008 | Journal eISSN: 2199-5761
Journal RSS Feed
Language: English
Page range: 13 - 20
Published on: Jun 30, 2017
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Genetic diagnosis,
Neurofibromatosis type I (NF1),
Next generation sequencing (NGS),
multiplex ligation-dependent probe amplification (MLPA)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2017 SD Ulusal, H Gürkan, E Atlı, SA Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Previous articleVolume 20 (2017): Issue 1 (June 2017)Next article