Associated Papers
Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
Borreguero CF et al.
International Journal of Obesity (2005), 2023
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Hanchard NA et al.
Molecular Genetics and Metabolism, 2011
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP et al.
Human Mutation, 2008
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