SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

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). MATERIAL-METHODS: Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included in the s...

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Detalles Bibliográficos
Autores principales: Kose, Melis, Canda, Ebru, Kagnici, Mehtap, Aykut, Ayça, Adebali, Ogün, Durmaz, Asude, Bircan, Aylin, Diniz, Gulden, Eraslan, Cenk, Kose, Engin, Ünalp, Aycan, Yılmaz, Ünsal, Ozyilmaz, Berk, Özdemir, Taha Reşid, Atik, Tahir, Uçar, Sema Kalkan, McFarland, Robert, Taylor, Robert W., Brown, Garry K., Çoker, Mahmut, Özkınay, Ferda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586243/
https://www.ncbi.nlm.nih.gov/pubmed/33134083
http://dx.doi.org/10.1016/j.ymgmr.2020.100657

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