SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
Makaleler > Tam Makale · 2020
Yazarlar: Melis Kose, Ebru CANDA, Mehtap Kagnici, Ayça AYKUT, Ogün Adebali, Mehmet Burak DURMAZ, Aylin Bircan, Gulden Diniz, Cenk ERASLAN, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir ATİK, Sema KALKAN UÇAR, Robert McFarland, Robert W Taylor, Garry K Brown, Mahmut ÇOKER, Feriştah Ferda ÖZKINAY
MOLECULAR GENETICS AND METABOLISM REPORTS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2020, cilt 25, ss 100657-100657
DOI: 10.1016/j.ymgmr.2020.100657
Özet
Introduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS).