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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

Hum Mol Genet. 2017 Nov 1; 26(21): 4257–4266. Published online 2017 Aug 25. doi: 10.1093/hmg/ddx314

PMCID:: PMC5886288

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PMC Links for OMIM (Select 606906) (1)
PMC
UI-R-CX0s-ccv-f-03-0-UI.s1 UI-R-CX0s Rattus norvegicus cDNA clone UI-R-CX0s-ccv-...
UI-R-CX0s-ccv-f-03-0-UI.s1 UI-R-CX0s Rattus norvegicus cDNA clone UI-R-CX0s-ccv-f-03-0-UI 3', mRNA sequence
gi|14939910|gnl|dbEST|9088806|gb|BI 0.1|

Nucleotide
PREDICTED: Homo sapiens unc-51 like kinase 3 (ULK3), transcript variant X6, mRNA
PREDICTED: Homo sapiens unc-51 like kinase 3 (ULK3), transcript variant X6, mRNA
gi|2217300742|ref|XM_047432371.1|

Nucleotide
Rattus norvegicus protein kinase, AMP-activated, gamma 1 non-catalytic subunit, ...
Rattus norvegicus protein kinase, AMP-activated, gamma 1 non-catalytic subunit, mRNA (cDNA clone MGC:116060 IMAGE:7454478), complete cds
gi|67678444|gb|BC097940.1|

Nucleotide

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