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Novel Mutations inSCO1as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

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Year: 2013
Type: article
Source: Human Mutation
DOI: 10.1002/humu.22385
Authors: Scot C. Leary, Hana Antonicka, Florin Sasarman, Woranontee Weraarpachai, Paul A. Cobine, Min Pan, Garry K. Brown, Ruth Brown, Jacek Majewski, Kevin C. H. Ha, Shamima Rahman, Eric A. Shoubridge
Institutions: University of Saskatchewan, Montreal Neurological Institute and Hospital, McGill University, Auburn University, University of Oxford, University College London
Language: English

Topic: Mitochondrial Function and Pathology
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Canadian Institutes of Health Research
OpenAlex ID: W2019322413
FWCI: 1.345
Cites: 18
Cited by: 47
Related to: 10
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