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A Bender et al.
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Y Kraytsberg et al.
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G Davidzon et al.
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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
S Winterthun et al.
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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
G Ferrari et al.
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Single-molecule PCR: an artifact-free PCR approach for the analysis of somatic mutations
Y Kraytsberg et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2005)
Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism -: art. no. e124
G Zsurka et al.
JOURNAL OF MEDICAL GENETICS (2004)
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
S Wanrooij et al.
NUCLEIC ACIDS RESEARCH (2004)
Mitochondrial genome variation in Eastern Asia and the peopling of Japan
M Tanaka et al.
GENOME RESEARCH (2004)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
R Del Bo et al.
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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
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Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples
FR Wiedemann et al.
ANALYTICAL BIOCHEMISTRY (2000)