Biochemical analysis of the G517V POLG variant reveals wild-type like activity.

Biochemical analysis of the G517V POLG variant reveals wild-type like activity.

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http://www.wikidata.org/entity/Q35501165
The interface of transcription and DNA replication in the mitochondriaMutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.Clinical and molecular features of POLG-related mitochondrial disease.Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progressionQuantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.Mitochondrial disease and endocrine dysfunction.Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.Rare variant of unknown significance in POLG1 and diagnostic dilemma.A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.POLG mutations in Australian patients with mitochondrial disease.
P2860

Biochemical analysis of the G517V POLG variant reveals wild-type like activity.

Item
http://www.wikidata.org/entity/Q35501165
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@ast
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@en
type
label
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@ast
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@en
prefLabel
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@ast
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
@en
P2093
P2860
P304
P31
P356
10.1016/J.MITO.2011.08.003
P433
P478
P577
P5875
P698
P932