A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency (Q35009121)

25293719

5 August 2017

title

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency (English)

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5 August 2017

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3

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5 June 2020

Robert McFarland

8

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Zofia M Chrzanowska-Lightowlers

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Holger Prokisch

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5 June 2020

Robert William Taylor

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object named as

Robert W Taylor

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6

Andrew Am Morris

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5 June 2020

10

Robert N Lightowlers

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5 June 2020

2

Tobias B Haack

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5 June 2020

1

Monika Oláhová

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5 June 2020

author name string

Jessica Ac Houghton

4

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5 June 2020

Langping He

5

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5 June 2020

Garry K Brown

7

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5 June 2020

publication date

8 October 2014

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25293719

European Journal of Human Genetics

5 August 2017

published in

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volume

23

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issue

7

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5 June 2020

page(s)

935-939

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Creative Commons Attribution 3.0 Unported

5 June 2020

copyright license

start time

8 October 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

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A role for Pet100p in the assembly of yeast cytochrome c oxidase: interaction with a subassembly that accumulates in a pet100 mutant.

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

8 July 2018

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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

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Cellular internalization and degradation of antithrombin III-thrombin, heparin cofactor II-thrombin, and alpha 1-antitrypsin-trypsin complexes is mediated by the low density lipoprotein receptor-related protein

21 January 2018

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21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25293719%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 June 2020

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5 June 2020

25293719

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