(Q34208670)

31 July 2017

title

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy (English)

1 reference

Christine Van Broeckhoven

31 July 2017

author

5

object named as

Christine Van Broeckhoven

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author name string

Gert Van Goethem

1

1 reference

31 July 2017

Marianne Schwartz

2

1 reference

31 July 2017

Ann Löfgren

3

1 reference

31 July 2017

Bart Dermaut

4

1 reference

31 July 2017

John Vissing

6

1 reference

31 July 2017

publication date

1 July 2003

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European Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

11

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31 July 2017

issue

7

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31 July 2017

page(s)

547-549

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

Multiple mtDNA deletions with features of MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201002

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201002

1 reference

Dimensions Publication ID

31 July 2017

1048214473

0 references

1 reference