Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations (Q81383788)

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8 January 2020

title

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations (English)

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8 January 2020

author name string

Gittan Kollberg

1

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8 January 2020

Monica Jansson

2

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8 January 2020

Asa Pérez-Bercoff

3

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8 January 2020

Atle Melberg

4

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8 January 2020

Christopher Lindberg

5

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8 January 2020

Elisabeth Holme

6

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8 January 2020

Ali-Reza Moslemi

7

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8 January 2020

Anders Oldfors

8

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8 January 2020

publication date

1 April 2005

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European Journal of Human Genetics

8 January 2020

published in

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8 January 2020

volume

13

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8 January 2020

issue

4

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8 January 2020

page(s)

463-469

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

8 January 2020

cites work

1 reference

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7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

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7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

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7 January 2021

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Replication of animal mitochondrial DNA.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Premature ageing in mice expressing defective mitochondrial DNA polymerase

1 reference

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7 January 2021

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

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7 January 2021

Mitochondrial DNA deletions in muscle fibers in inclusion body myositis

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7 January 2021

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions

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7 January 2021

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

1 reference

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7 January 2021

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Base miscoding and strand misalignment errors by mutator Klenow polymerases with amino acid substitutions at tyrosine 766 in the O helix of the fingers subdomain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201341

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201341

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8 January 2020

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