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A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

Lookup NU author(s): Dr Langping He, Professor Robert Taylor


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Author(s): Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y

Publication type: Article

Journal: Human Mutation

Year: 2018

Volume: 39

Issue: 1

Pages: 69-79

Online publication date: 16/10/2017

Acceptance date: 11/09/2017

Print publication date: 01/01/2018

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley and Sons Inc.


DOI: 10.1002/humu.23345


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