A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 621 citations

Life Sciences, Genetics, Molecular Biology +14

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 585 citations

Life Sciences, Genetics, Molecular Genetics +11

Statistical features of human exons and their flanking regions

Michael Zhang · Human Molecular Genetics · 1998 · 464 citations

Life Sciences, Genetics, Molecular Genetics +13

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mitochondrial DNA depletion and <i>dGK</i> gene mutations

Leonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso et al. · Annals of Neurology · 2002 · 162 citations

Life Sciences, Genetics, Molecular Genetics +16