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

Publication date: Available online 14 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Thomas Johnstone, Jennifer Wang, Daron Ross, Nicholas Balanda, Yan Huang, Rena Godfrey, Catherine Groden, Brandon R. Barton, William Gahl, Camilo Toro, May Christine V. Malicdan
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research