Origin of the expansion mutation in myotonic dystrophy (Q70765926)

From Wikidata

Jump to navigation Jump to search

scientific article published on 01 May 1993

edit

Language	Label	Description	Also known as
English	Origin of the expansion mutation in myotonic dystrophy	scientific article published on 01 May 1993

Statements

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

 

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

Retrieved from "https://www.wikidata.org/w/index.php?title=Q70765926&oldid=2218970334"