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Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

Thomas Johnstone, Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang, Rena A. Godfrey, Catherine Groden, Brandon Barton, William A. Gahl, Camilo Toro, May Christine V. Malicdan

2020Molecular Genetics and Metabolism11 citationsDOIOpen Access PDF

Topics & Concepts

ProbandBiologyPhenotypeLeigh diseaseRespiratory chainRNA splicingMitochondrial biogenesisGeneticsGeneMitochondrionMutationRNAMitochondrial Function and PathologyMetabolism and Genetic DisordersRNA and protein synthesis mechanisms
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome | Litcius