POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.
about
DNA polymerases in the mitochondria: A critical review of the evidence.Human mitochondrial DNA replication machinery and disease.Inherited mitochondrial genomic instability and chemical exposures.ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells.Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.Off-Target Effects of Drugs that Disrupt Human Mitochondrial DNA Maintenance.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
P2860
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P2860
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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name
POLG2 disease variants: analys ...... impaired respiratory capacity.
@ast
POLG2 disease variants: analys ...... impaired respiratory capacity.
@en
type
label
POLG2 disease variants: analys ...... impaired respiratory capacity.
@ast
POLG2 disease variants: analys ...... impaired respiratory capacity.
@en
prefLabel
POLG2 disease variants: analys ...... impaired respiratory capacity.
@ast
POLG2 disease variants: analys ...... impaired respiratory capacity.
@en
P2093
P2860
P921
P356
P1476
POLG2 disease variants: analys ...... impaired respiratory capacity
@en
P2093
Karen L DeBalsi
Kathie Y Sun
Margaret M Humble
Matthew J Young
P2860
P304
P356
10.1093/HMG/DDV240
P577
2015-06-29T00:00:00Z