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Dynamic mutations hit double figures
scientific article published on 01 November 1994
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
title
Dynamic mutations hit double figures
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
author name string
Willems PJ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
publication date
1 November 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
8
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
213-215
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng1194-213
0 references
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Triplet repeat mutations in human disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
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%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dynamic mutations: a new class of mutations causing human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Triplet repeats on the rise
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Questions of expansion
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeat instability: when and where?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
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Simple repeat DNA is not replicated simply
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide diseases on the rise
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Triplet repeat genes raise questions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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inferred from DOI database lookup
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
1 reference
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Crossref
reference URL
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7 January 2021
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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
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Crossref
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7 January 2021
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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
1 reference
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
1 reference
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Crossref
reference URL
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7 January 2021
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
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7 January 2021
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Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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inferred from DOI database lookup
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of fragile X syndrome with delayed replication of the FMR1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
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%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA methylation represses FMR-1 transcription in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The essentials of DNA methylation
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
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Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
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7 January 2021
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A point mutation in the FMR-1 gene associated with fragile X mental retardation
1 reference
stated in
Crossref
reference URL
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7 January 2021
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Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
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7 January 2021
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Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
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7 January 2021
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Characterization and localization of the Huntington disease gene product
1 reference
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Crossref
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Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Homozygotes for Huntington's disease
1 reference
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Crossref
reference URL
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7 January 2021
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Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases
1 reference
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Crossref
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Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism
1 reference
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Crossref
reference URL
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7 January 2021
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1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Structure and evolution of the human involucrin gene
1 reference
stated in
Crossref
reference URL
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7 January 2021
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Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
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Myotonic dystrophy reviewed: back to the future?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1194-213
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG1194-213
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed ID
7874160
1 reference
stated in
Europe PubMed Central
PubMed ID
7874160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874160%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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