(Q71995466)

English

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

scientific article published on 01 September 1995

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Nils-Göran Larsson

3

object named as

N G Larsson

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

M H Tulinius

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

M Houshmand

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

E Holme

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

A Oldfors

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

E Holmberg

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

J Wahlström

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

publication date

1 September 1995

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

96

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

290-294

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00210409

0 references

Sequence and organization of the human mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited Leigh syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation and Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7649544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00210409

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649544%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q71995466&oldid=2157009544"