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Browsing Araştırma Çıktıları | Pubmed İndeksli Yayınlar Koleksiyonu by Author "Zeltner, L"

Browsing Araştırma Çıktıları | Pubmed İndeksli Yayınlar Koleksiyonu by Author "Zeltner, L"

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  • Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional 
    Oktay, Y; Gungor, S; Zeltner, L; Wiethoff, S; Schols, L; Sonmezler, E; Yilmaz, E; Munro, B; Bender, B; Kernstock, C; Kaemereit, S; Liepelt, I; Topf, A; Yis, U; Laurie, S; Yaramis, A; Zuchner, S; Hiz, S; Lochmuller, H; Schule, R; Horvath, R (2020)
    Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.