High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency - Calvo, Sarah E; Tucker, Elena J; Compton, Alison G; Kirby, Denise M; Crawford, Gabriel; Burtt, Noel P; Rivas, Manuel; Guiducci, Candace; Bruno, Damien L; Goldberger, Olga A; Redman, Michelle C; Wiltshire, Esko; et al. (Nature genetics, 2010)
Keywords: 631/443/319/1642; Agriculture; Animal Genetics and Genomics; Awards & honors; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Blotting, Western; Cancer Research; Case-Control Studies; DNA sequencing; Electron Transport Complex I - genetics; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Function; Gene mutations; Genetic aspects; Genetic Association Studies; Genetic testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Human Genetics; Human subjects; Humans; Methods; Mitochondrial diseases; Mitochondrial Diseases - genetics; Mitochondrial DNA; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Mutation; Mutation - genetics; Nucleotide sequencing; Project management; Reverse Transcriptase Polymerase Chain Reaction; Risk factors; RNA, Messenger - genetics; Sequence Analysis, DNA; Studies; Australia; Human; Identification; Pool; Mutation; Sequencing; Deficiency