A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. (Q55043042)

16 June 2018

http://europepmc.org/abstract/MED/17275378

title

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. (English)

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16 June 2018

http://europepmc.org/abstract/MED/17275378

6

Arnold Munnich

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16 June 2018

5

Agnès Rötig

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16 June 2018

Sophie Lebon

1

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16 June 2018

http://europepmc.org/abstract/MED/17275378

Diana Rodriguez

2

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16 June 2018

http://europepmc.org/abstract/MED/17275378

Delphine Bridoux

3

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16 June 2018

http://europepmc.org/abstract/MED/17275378

Amal Zerrad

4

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16 June 2018

http://europepmc.org/abstract/MED/17275378

Alain Legrand

7

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16 June 2018

http://europepmc.org/abstract/MED/17275378

Abdelhamid Slama

8

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16 June 2018

http://europepmc.org/abstract/MED/17275378

publication date

1 February 2007

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16 June 2018

http://europepmc.org/abstract/MED/17275378

published in

Molecular Genetics and Metabolism

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16 June 2018

http://europepmc.org/abstract/MED/17275378

volume

90

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16 June 2018

http://europepmc.org/abstract/MED/17275378

issue

4

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16 June 2018

http://europepmc.org/abstract/MED/17275378

page(s)

379-382

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16 June 2018

http://europepmc.org/abstract/MED/17275378

cites work

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Molecular diagnostics of mitochondrial disorders

7 January 2021

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Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

7 January 2021

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

7 January 2021

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

7 January 2021

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Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial complex I: genomic organization and expression

7 January 2021

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Reference charts for respiratory chain activities in human tissues

7 January 2021

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Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

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Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts

7 January 2021

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Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

7 January 2021

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

7 January 2021

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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

7 January 2021

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Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

7 January 2021

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Mitochondrial complex I: structure, function and pathology

7 January 2021

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Titrating the effects of mitochondrial complex I impairment in the cell physiology

7 January 2021

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10.1016/J.YMGME.2006.12.007

7 January 2021

Identifiers

DOI

1 reference

16 June 2018

http://europepmc.org/abstract/MED/17275378

1 reference

16 June 2018