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

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

Genetic Analysis, Haplotype Determination, Medicine +10

Faster sequential genetic linkage computations.

Robert W. Cottingham, Ramana M. Idury, Alejandro A. Schäffer · PubMed · 1993 · 1.4K citations

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 892 citations

Mitochondrial Myopathy, Mendelian Disorder, Mitochondrial Function +14

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 614 citations

Mitochondrial Myopathy, Mitochondrial Function, Natural Sciences +4

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations