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The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
title
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
author name string
R Peoples
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
L Perez-Jurado
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
Y K Wang
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
P Kaplan
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
U Francke
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
language of work or name
English
0 references
publication date
1 June 1996
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
volume
58
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
page(s)
1370-1373
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
cites work
Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans
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=1915059
retrieved
7 April 2017
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
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=1915059
retrieved
7 April 2017
The subunits of activator 1 (replication factor C) carry out multiple functions essential for proliferating-cell nuclear antigen-dependent DNA synthesis
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=1915059
retrieved
7 April 2017
Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23
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=1915059
retrieved
7 April 2017
Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells
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=1915059
retrieved
7 April 2017
Characterization of the five replication factor C genes of Saccharomyces cerevisiae
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=1915059
retrieved
7 April 2017
The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome
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=1915059
retrieved
7 April 2017
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
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=1915059
retrieved
7 April 2017
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.
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=1915059
retrieved
28 September 2017
Natural history of Williams syndrome: physical characteristics
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=1915059
retrieved
28 September 2017
A to G polymorphism in ELN 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=1915059
retrieved
28 September 2017
Unbalanced 13;18 translocation and Williams syndrome
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=1915059
retrieved
28 September 2017
Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.
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=1915059
retrieved
28 November 2018
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
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=1915059
retrieved
28 November 2018
Identifiers
PMCID
1915059
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
PubMed ID
8651315
1 reference
stated in
Europe PubMed Central
PMCID
1915059
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651315%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 October 2019
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