关键词: Congenital disorders of glycosylation Cryptic splice site GFM1 Mitochondrial disease Mitochondrial elongation factor
Mesh : Child Child, Preschool Congenital Abnormalities / genetics pathology Gene Expression Humans Infant Infant, Newborn Male Mitochondrial Proteins / biosynthesis genetics Oxidative Phosphorylation Peptide Elongation Factor G / biosynthesis genetics RNA Splice Sites
来 源:
DOI:10.1016/j.mito.2017.02.004
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