The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
- ATİK, TAHİR
- DURMAZ, ASUDE
- Kose, Melis
- IŞIK, ESRA
- AYKUT, AYÇA
- Kose, Engin
- Ersoy, Melike
- Diniz, Gulden
- Adebali, Ogun
- Unalp, Aycan
- Yilmaz, Unsal
- Edizer, Selvinaz
- Tekin, Hande Gazeteci
- Ozdemir, Taha Resid
- Onay, Huseyin
- Ozkinay, Ferda
- Karaoglu, Pakize
DOIAbstract
Objectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD
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