Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation (Q47976366)

7 February 2018

title

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation (English)

1 reference

7 February 2018

1 reference

Alexandra Götz

1

1 reference

7 February 2018

Pirjo Isohanni

2

1 reference

7 February 2018

Brita Liljeström

3

1 reference

7 February 2018

Jaana Rummukainen

4

1 reference

7 February 2018

Kari Nikolajev

5

1 reference

7 February 2018

Eila Herrgård

6

1 reference

7 February 2018

Sanna Marjavaara

7

1 reference

7 February 2018

Anu Suomalainen

8

1 reference

7 February 2018

language of work or name

English

0 references

publication date

27 March 2012

1 reference

7 February 2018

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

Pediatric Research

1 reference

7 February 2018

volume

72

1 reference

7 February 2018

issue

1

1 reference

7 February 2018

page(s)

90-94

1 reference

7 February 2018

https://scigraph.springernature.com/pub.10.1038/pr.2012.43

exact match

0 references

cites work

Prevalence of mitochondrial DNA disease in adults

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Mitochondrial disorders: prevalence, myths and advances.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Pathogenic mitochondrial DNA mutations are common in the general population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Human mitochondrial tRNAs in health and disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Search for characteristic structural features of mammalian mitochondrial tRNAs.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Strong purifying selection in transmission of mammalian mitochondrial DNA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Aminoacyl-tRNA surveillance by EF-Tu in mammalian mitochondria.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

T-armless tRNAs and elongated elongation factor Tu.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.43

31 March 2020

Identifiers

DOI

10.1038/PR.2012.43

1 reference

7 February 2018

Dimensions Publication ID

1034436182

0 references

Fatcat ID

release_3ejkfolm2jay7n3v5szcp3zpuy

0 references

PubMed ID

22453297

1 reference

7 February 2018