Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

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Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

P2860

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P2860

Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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name

Synergistic Effects of the in ...... olymerase γ Disease Mutations.

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Synergistic Effects of the in ...... olymerase γ Disease Mutations.

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type

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Synergistic Effects of the in ...... olymerase γ Disease Mutations.

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Synergistic Effects of the in ...... olymerase γ Disease Mutations.

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prefLabel

Synergistic Effects of the in ...... olymerase γ Disease Mutations.

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Synergistic Effects of the in ...... olymerase γ Disease Mutations.

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P1476

Synergistic Effects of the in ...... Polymerase γ Disease Mutations

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P2093

Karen L DeBalsi

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Kirsten E Hoff

http://www.w3.org/2001/XMLSchema#string

Matthew J Longley

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P2860

The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

Mitochondrial Redox Dysfunction and Environmental Exposures

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

Functions of DNA polymerases

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4198-4209

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scholarly article

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10.1074/JBC.M116.773341

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English

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292

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William C Copeland

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2017-02-02T00:00:00Z

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28154168

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mitochondrial DNA

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5354484

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Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

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P2860

P2860

Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

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type

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P1476

P2093

P2860

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P356

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P50

P577

P698

P921

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P2093

P2860

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