Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency

Title
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
Authors
Keywords
GFM1, Mitochondrial disease, Congenital disorders of glycosylation, Mitochondrial elongation factor, Cryptic splice site
Journal
MITOCHONDRION
Volume 34, Issue -, Pages 84-90
Publisher
Elsevier BV
Online
2017-02-13
DOI
10.1016/j.mito.2017.02.004

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