(Q43146574)

14 November 2017

Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

lethal infantile mitochondrial myopathy

20 September 2022

main subject

0 references

author name string

M. D. Brown

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

20 September 2022

A. Torroni

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

20 September 2022

J. M. Shoffner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

20 September 2022

D. C. Wallace

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

20 September 2022

language of work or name

English

0 references

publication date

1 August 1992

1 reference

PMCID

1682685

full work available at URL

14 November 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379415/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379415/?tool=EBI

20 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

https://europepmc.org/articles/PMC1682685

20 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

https://europepmc.org/articles/PMC1682685?pdf=render

20 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379415

American Journal of Human Genetics

20 September 2022

published in

1 reference

14 November 2017

51

1 reference

14 November 2017

2

1 reference

14 November 2017

446-447

1 reference

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

14 November 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682685

Identification of point mutations by mispairing PCR as exemplified in MERRF disease

25 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682685

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

25 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682685

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

25 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1379415

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1379415

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1682685

1 reference

14 November 2017

1 reference

PMCID

1682685