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English
Hunter syndrome: gene deletions and rearrangements
scientific article published on 01 January 1993
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
title
Hunter syndrome: gene deletions and rearrangements
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
author name string
Froissart R
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Blond JL
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Maire I
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Guibaud P
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Hopwood JJ
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Mathieu M
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Bozon D
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
publication date
1 January 1993
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
volume
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
page(s)
138-140
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
cites work
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of point mutations and a gross deletion in six Hunter Syndrome patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New distal marker closely linked to the fragile X locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new DNA marker tightly linked to the fragile X locus (FRAXA).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural gene aberrations in mucopolysaccharidosis II (Hunter)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020214
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380020214
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
PubMed ID
8318991
1 reference
stated in
Europe PubMed Central
PubMed ID
8318991
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318991%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
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