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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Lookup NU author(s): Dr John Yarham, Dr Eve CosgraveORCiD, Dr Satomi MiwaORCiD, Professor Bobby McFarlandORCiD, Professor Robert TaylorORCiD

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Author(s): Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MAM, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2013

Volume: 93

Issue: 3

Pages: 471-481

Print publication date: 29/08/2013

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2013.07.017

DOI: 10.1016/j.ajhg.2013.07.017

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