Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q34327027)
Watch
English
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
scientific article
In more languages
default for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
title
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
author
George C. Ebers
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
author name string
George AL Jr
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Crackower MA
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Abdalla JA
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Hudson AJ
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
language of work or name
English
0 references
publication date
1 April 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
volume
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
page(s)
305-310
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
cites work
Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
AAEE minimonograph #27: differential diagnosis of myotonic syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia in the goat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The myotonic mouse mutant ADR: electrophysiology of the muscle fiber
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The pathophysiology of myotonia produced by aromatic carboxylic acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered Na+ channel activity and reduced Cl? conductance cause hyperexcitability in recessive generalized myotonia (becker)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inactivation of muscle chloride channel by transposon insertion in myotonic mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The skeletal muscle chloride channel in dominant and recessive human myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characteristics of the chloride conductance in muscle fibers of the rat diaphragm
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
On the repetitive discharge in myotonic muscle fibres
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Membrane changes in cells from myotonia patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygote manifestation in recessive generalized myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Calcium channel characteristics conferred on the sodium channel by single mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations affecting TEA blockade and ion permeation in voltage-activated K+ channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Osteogenesis imperfecta: translation of mutation to phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preparative and analytical purification of DNA from agarose
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0493-305
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0493-305
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
PubMed publication ID
7981750
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7981750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
