(Q56761880)

1

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Sara Seneca

2

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Eliane Damis

3

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Brigitte Sepulchre

4

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Anne Hoorens

5

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Erik Gerlo

6

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M Teres García Silva

7

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Elena Martín Hernandez

8

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Willy Lissens

9

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Rudy Van Coster

10

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M. Teres García Silva

American Journal of Medical Genetics

7

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language of work or name

English

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publication date

30 August 2003

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9 April 2003

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published in

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volume

121A

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issue

2

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page(s)

126-31

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126-131

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cites work

Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

Cytochrome c oxidase deficiency in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

Functional characterization of novel mutations in the human cytochrome b gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

Human cytochrome oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20171