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English
Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene
scientific article published on March 1997
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
title
Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
author
Carsten Holzmann
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
author name string
A M Saecker
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
J T Epplen
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
O Riess
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
language of work or name
English
0 references
publication date
1 March 1997
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
volume
34
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
page(s)
264
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
cites work
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
26 October 2017
Trinucleotide repeat length instability and age of onset in Huntington's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
26 October 2017
Genomic sequencing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
26 October 2017
Huntington's disease. Pathogenesis and management
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
26 October 2017
Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
29 May 2018
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
29 May 2018
A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
29 May 2018
A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
17 August 2018
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
17 August 2018
Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
17 August 2018
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
17 August 2018
Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050907
retrieved
17 August 2018
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9132504
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.34.3.264
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
PMC publication ID
1050907
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
PubMed publication ID
9132504
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050907
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132504%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
ResearchGate publication ID
14084851
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