(Q34082583)

30 July 2017

title

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

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Christine Van Broeckhoven

30 July 2017

author

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

volume

28

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30 July 2017

issue

3

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30 July 2017

page(s)

211-212

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

30 July 2017

exact match

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cites work

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Replication of animal mitochondrial DNA.

1 reference

7 January 2021

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

1 reference

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

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