Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
Leigh syndrome (LS) is a rare progressive multi-system neurodegenerative disorder, the genetics of which is frequently difficult to resolve. Rapid determination of the genetic etiology of LS in a 5-year-old girl facilitated inclusion in Edison Pharmaceutical's phase 2B clinical trial of EPI-743. SNP-arrays and high-coverage whole exome sequencing w...
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Full title
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient
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TN_cdi_plos_journals_2013804673
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2013804673
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0104879
