Natural History of SURF1 Deficiency: A Retrospective Chart Review
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference17 articles.
1. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency;Tiranti;Ann Neurol,1999
2. SURF1 mutations in Chinese patients with Leigh syndrome: novel mutations, mutation spectrum, and the functional consequences;Li;Gene,2018
3. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency;Tiranti;Am J Hum Genet,1998
4. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome;Zhu;Nat Genet,1998
5. Leigh syndrome: one disorder, more than 75 monogenic causes;Lake;Ann Neurol,2016
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