(Q51031048)

English

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.

scientific article published in January 2004

In more languages

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

author name string

R A Head

1

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

R M Brown

2

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

G K Brown

3

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

publication date

1 January 2004

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

27

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

1

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

57-65

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

https://scigraph.springernature.com/pub.10.1023/b:boli.0000016622.05609.b8

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A SURF1 gene mutation presenting as isolated leukodystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

2 references

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000016622.05609.B8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by 'reconditioning PCR'

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/B:BOLI.0000016622.05609.B8

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14970746

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