Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency (Q57023932)

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23 April 2020

title

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency (English)

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NADH:ubiquinone oxidoreductase subunit A6

23 April 2020

main subject

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mitochondrial respiratory chain complex I assembly

GOA release 2020-03-11

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GOA release 2020-03-11

mitochondrion

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mitochondrial complex I deficiency

inferred from title

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14

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Kateřina Tauchmannová

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Robert McFarland

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Joanna Poulton

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Michael T Ryan

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Robert William Taylor

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object named as

Robert W Taylor

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1

Charlotte L Alston

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Johannes A Mayr

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Carl Fratter

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Wolfgang Sperl

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Holger Prokisch

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Ilka Wittig

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Ruth I C Glasgow

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René G Feichtinger

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Gerardine Quaghebeur

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F Lucy Raymond

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author name string

Juliana Heidler

2

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Marris G Dibley

3

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Laura S Kremer

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Lucie S Taylor

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Courtney E French

7

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Isabelle Delon

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Alistair T Pagnamenta

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Helen Dolling

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Hugh Lemonde

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Alf Bjørnstad

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Lisa Henneke

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Jutta Gärtner

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Holger Thiele

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Josef Houstek

21

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Marco Henneke

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language of work or name

English

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publication date

20 September 2018

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American Journal of Human Genetics

23 April 2020

published in

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volume

103

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issue

4

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page(s)

592-601

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Improved staining of proteins in polyacrylamide gels including isoelectric focusing gels with clear background at nanogram sensitivity using Coomassie Brilliant Blue G-250 and R-250.

23 April 2020

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10.1016/J.AJHG.2018.08.013

Identifiers

DOI

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