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mitochondrial dna depletion syndrome, (mngie type)
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Purine metabolism
Homo sapiens (human)
one gene
Clinical Trials
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External
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (NAMDC)
Cancer Gene Census
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POLG
Somatic tumors
CRC
Tumor types germline
Cancer Syndrom
Translocation partner
Name
DNA polymerase gamma, catalytic subunit
Chromosome banding
15q26.1
Cancer molecular gen.
Mutation type
N, O
Other syndrome disease
mitochondrial DNA depletion syndrome
PubMed Links
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TYMP
Altered thymidine metabolism due to defects of thymidine phosphorylase
POLG
Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma
DNA polymerase gamma in mitochondrial DNA replication and repair
DNA polymerase gamma in mitochondrial DNA replication and repair
RRM2B
Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls
Genotoxicity test system based on p53R2 gene expression in human cells: examination with 80 chemicals
Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits
Definition
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