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English
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
scientific article published in January 1994
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
title
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
main subject
deafness
1 reference
based on heuristic
inferred from title
author
Howard Jacobs
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
author name string
Reid FM
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
Vernham GA
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
volume
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
page(s)
243-247
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
cites work
Sequence and organization of the human mitochondrial genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Man's place in Hominoidea revealed by mitochondrial DNA genealogy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic aspects of antibiotic induced deafness: mitochondrial inheritance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sensorineural deafness inherited as a tissue specific mitochondrial disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
tRNA identity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical characterization of a pedigree with mitochondrially inherited deafness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA sequencing with chain-terminating inhibitors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hearing impairment and the Kearns-Sayre syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The T-loop region of animal mitochondrial tRNA(Ser)(AGY) is a main recognition site for homologous seryl-tRNA synthetase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diseases of the mitochondrial DNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial diseases: genotype versus phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380030311
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380030311
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
Fatcat ID
release_ku2bnbkx6fb4lhry6idgod55pu
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/ku2bnbkx6fb4lhry6idgod55pu
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PubMed publication ID
8019558
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8019558
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019558%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 October 2019
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