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2014 | 1 |
2019 | 1 |
2020 | 1 |
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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23.
Am J Hum Genet. 2014.
PMID: 24462369
Free PMC article.
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J.
Riley LG, et al.
Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21.
Genet Med. 2020.
PMID: 32313153
Free article.
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The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
Mansour H, Sabbagh S, Bizzari S, El-Hayek S, Chouery E, Gambarini A, Gencik M, Mégarbané A.
Mansour H, et al.
J Pediatr Genet. 2019 Sep;8(3):172-178. doi: 10.1055/s-0039-1685172. Epub 2019 Apr 16.
J Pediatr Genet. 2019.
PMID: 31406627
Free PMC article.
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