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English
A study of Wilson disease mutations in Britain
scientific article published on 01 January 1999
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
title
A study of Wilson disease mutations in Britain
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
main subject
Wilson disease
1 reference
based on heuristic
inferred from title
author
Anne C Goodeve
object named as
Anne Goodeve
series ordinal
5
0 references
Anne C Goodeve
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
author name string
Diana Curtis
series ordinal
1
0 references
Miranda Durkie
series ordinal
2
0 references
Pauline Balac (Morris)
series ordinal
3
0 references
Donna Sheard
series ordinal
4
0 references
Ian Peake
series ordinal
6
0 references
Oliver Quarrell
series ordinal
7
0 references
Stuart Tanner
series ordinal
8
0 references
D Curtis
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
M Durkie
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
P Balac (Morris)
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
D Sheard
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
I Peake
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
O Quarrell
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
S Tanner
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
publication date
October 1999
0 references
1 January 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
volume
14
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
page(s)
304-311
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
cites work
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
H714Q mutation in Wilson disease is associated with late, neurological presentation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Haplotype and mutation analysis in Japanese patients with Wilson disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
The Wilson disease gene: spectrum of mutations and their consequences.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Efficient detection of mutations in Wilson disease by manifold sequencing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
PubMed ID
10502777
1 reference
stated in
Europe PubMed Central
PubMed ID
10502777
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10502777%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
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