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A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
title
A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
main subject
mitochondrial DNA
0 references
author
Andrew M Schaefer
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Robert McFarland
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Robert William Taylor
series ordinal
1
object named as
Robert W Taylor
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Douglass Matthew Turnbull
series ordinal
5
object named as
Douglass M Turnbull
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author name string
Paul Maddison
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
publication date
1 October 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
published in
Neuromuscular Disorders
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
volume
12
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
issue
7-8
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
page(s)
659-664
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
cites work
Mitochondrial DNA and disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA mutations in human disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mitochondrial tRNA anticodon swap associated with a muscle disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial mutation in fatal infantile cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mtDNA point mutation in maternally inherited cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mitochondrial tRNA Ile point mutation in chronic progressive external ophthalmoplegia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900026-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0960-8966(02)00026-3
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
PubMed ID
12207935
1 reference
stated in
Europe PubMed Central
PubMed ID
12207935
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
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