Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions (Q34082583)

30 July 2017

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

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Christine Van Broeckhoven

30 July 2017

5

object named as

Van Broeckhoven C

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30 July 2017

Van Goethem G

1

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30 July 2017

Dermaut B

2

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30 July 2017

Löfgren A

3

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30 July 2017

Martin JJ

4

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30 July 2017

language of work or name

English

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publication date

1 July 2001

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30 July 2017

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30 July 2017

28

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30 July 2017

211-212

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30 July 2017

3

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https://scigraph.springernature.com/pub.10.1038/90034

30 July 2017

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cites work

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

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7 January 2021

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

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7 January 2021

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

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7 January 2021

An autosomal locus predisposing to deletions of mitochondrial DNA

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7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

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7 January 2021

Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Crystal structure of a pol alpha family replication DNA polymerase from bacteriophage RB69

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7 January 2021

Identification of conserved residues contributing to the activities of adenovirus DNA polymerase

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7 January 2021

Replication of animal mitochondrial DNA.

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7 January 2021

Characterization of a catalytically slow AP lyase activity in DNA polymerase gamma and other family A DNA polymerases

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7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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7 January 2021

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

1 reference

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

7 January 2021

Identifiers

DOI

10.1038/90034

1 reference

30 July 2017

1 reference