Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

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http://www.wikidata.org/entity/Q36394823
DNA polymerase γ and disease: what we have learned from yeastEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.Mitochondrial DNA: impacting central and peripheral nervous systems.Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanismsEvolution of the metazoan mitochondrial replicase.Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.Structure, function and evolution of the animal mitochondrial replicative DNA helicase.Animal Mitochondrial DNA Replication.Inherited mitochondrial genomic instability and chemical exposures.Rare variant of unknown significance in POLG1 and diagnostic dilemma.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.Acute liver failure after valproate exposure: Liver transplantation may be indicated beyond childhood.
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Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

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http://www.wikidata.org/entity/Q36394823
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2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
Mapping 136 pathogenic mutatio ...... te spectrum of POLG syndromes.
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Mapping 136 pathogenic mutatio ...... te spectrum of POLG syndromes.
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Mapping 136 pathogenic mutatio ...... te spectrum of POLG syndromes.
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Mapping 136 pathogenic mutatio ...... te spectrum of POLG syndromes.
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Mapping 136 pathogenic mutatio ...... te spectrum of POLG syndromes.
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Mapping 136 pathogenic mutatio ...... te spectrum of POLG syndromes.
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Mapping 136 pathogenic mutatio ...... ete spectrum of POLG syndromes
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10.1016/J.BBABIO.2014.01.021
P407
P433
P478
P50
P577
P5875
P698
P932