Leigh disease associated with a novel mitochondrial DNA ND5 mutation (Q63952710)

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9 December 2019

title

Leigh disease associated with a novel mitochondrial DNA ND5 mutation (English)

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9 December 2019

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3

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9 December 2019

Robert William Taylor

series ordinal

1

object named as

Robert W Taylor

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9 December 2019

author name string

Douglass M Turnbull

series ordinal

4

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9 December 2019

Andrew A M Morris

series ordinal

2

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9 December 2019

publication date

1 February 2002

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European Journal of Human Genetics

9 December 2019

published in

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9 December 2019

volume

10

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9 December 2019

issue

2

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9 December 2019

page(s)

141-144

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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

The protein information resource (PIR)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200773

7 January 2021

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

1 reference

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200773

1 reference

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Dimensions Publication ID

9 December 2019

1021148209

0 references

1 reference