Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect
Author:
Funder
Baylor College of Medicine Medical Scientist Training Program
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference41 articles.
1. Mitochondrial DNA maintenance defects;El-Hattab;Biochim. Biophys. Acta,2017
2. Disorders of purine and pyrimidine metabolism;Nyhan;Mol. Genet. Metab.,2005
3. Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2;Johansson;J. Biol. Chem.,1997
4. Cloning and expression of human deoxyguanosine kinase cDNA;Johansson;Proc. Natl. Acad. Sci. U. S. A.,1996
5. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy;Saada;Nat. Genet.,2001
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