Associated Papers
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.
Feng Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy.
Kohler JJ et al.
Cardiovascular Toxicology, 2008
Deoxyribonucleoside kinases in mitochondrial DNA depletion.
Saada-Reisch A
Nucleosides, Nucleotides & Nucleic Acids, 2004
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.
Wang L et al.
The Journal of Biological Chemistry, 2003
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S et al.
Molecular Genetics and Metabolism, 0
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