(Q55054069)

16 June 2018

review article

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title

Infantile cardioencephalopathy due to a COX15 gene defect: report and review. (English)

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16 June 2018

author

Graham Sinclair

4

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16 June 2018

Hilary Vallance

object named as

Hilary D Vallance

10

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author name string

Majid Alfadhel

1

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16 June 2018

Yolanda P Lillquist

2

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16 June 2018

Paula J Waters

3

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16 June 2018

Eduard Struys

5

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16 June 2018

Deborah McFadden

6

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16 June 2018

Glenda Hendson

7

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16 June 2018

Lauren Hyams

8

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16 June 2018

John Shoffner

9

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16 June 2018

language of work or name

English

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publication date

15 March 2011

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

155A

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16 June 2018

issue

4

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16 June 2018

page(s)

840-844

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16 June 2018

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Regulation of the heme A biosynthetic pathway in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Cytochrome c oxidase deficiency: patients and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Human cytochrome oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Mutation screening in patients with isolated cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

Respiratory chain encephalomyopathies: a diagnostic classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33881

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33881

1 reference

16 June 2018

1 reference

16 June 2018