(Q41859118)

13 October 2017

Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases (English)

1 reference

13 October 2017

Radhika Chadha

1

1 reference

13 October 2017

Ritika Shah

series ordinal

2

1 reference

13 October 2017

Shalini Mani

series ordinal

3

1 reference

13 October 2017

30 June 2014

1 reference

13 October 2017

1 reference

13 October 2017

10

1 reference

13 October 2017

6

1 reference

13 October 2017

329-333

1 reference

The many clinical faces of cytochrome c oxidase deficiency

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

5 June 2018

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Mutation screening in patients with isolated cytochrome c oxidase deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110422

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25097374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic consequences of a novelSCO2gene mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25097374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.6026/97320630010329

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

25097374

1 reference