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English
Origin of the expansion mutation in myotonic dystrophy
scientific article published on 01 May 1993
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
title
Origin of the expansion mutation in myotonic dystrophy
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
main subject
myotonic dystrophy
1 reference
based on heuristic
inferred from title
author name string
Imbert G
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
Kretz C
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
Johnson K
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
Mandel JL
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
publication date
1 May 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
page(s)
72-76
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
cites work
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of unstable DNA region in Japanese myotonic dystrophy patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of founder chromosomes in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Triplet repeat mutations in human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Presymptomatic diagnosis of myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unstable DNA sequence in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A second-generation linkage map of the human genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X founder effect?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0593-72
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0593-72
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
PubMed publication ID
8513329
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8513329
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513329%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
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