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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
scientific journal article
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scholarly article
1 reference
stated in
PubMed
PubMed ID
10835642
retrieved
4 January 2017
title
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
(English)
1 reference
stated in
PubMed
PubMed ID
10835642
retrieved
4 January 2017
author
Zsolt Urban
object named as
Z. Urban
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2
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Daniela Quaglino
object named as
D. Quaglino
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6
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author name string
O. Le Saux
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1
1 reference
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PubMed
PubMed ID
10835642
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4 January 2017
C. Tschuch
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3
1 reference
stated in
PubMed
PubMed ID
10835642
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4 January 2017
K. Csiszar
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4
1 reference
stated in
PubMed
PubMed ID
10835642
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4 January 2017
B. Bacchelli
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PubMed
PubMed ID
10835642
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I. Pasquali-Ronchetti
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PubMed
PubMed ID
10835642
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F. M. Pope
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PubMed
PubMed ID
10835642
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A. Richards
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PubMed
PubMed ID
10835642
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S. Terry
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PubMed
PubMed ID
10835642
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L. Bercovitch
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PubMed
PubMed ID
10835642
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A. de Paepe
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PubMed
PubMed ID
10835642
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C. D. Boyd
series ordinal
13
1 reference
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PubMed
PubMed ID
10835642
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4 January 2017
language of work or name
English
0 references
publication date
1 June 2000
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stated in
PubMed
PubMed ID
10835642
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4 January 2017
published in
Nature Genetics
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stated in
PubMed
PubMed ID
10835642
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4 January 2017
volume
25
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stated in
PubMed
PubMed ID
10835642
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4 January 2017
page(s)
223–227
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PubMed
PubMed ID
10835642
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issue
2
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PubMed
PubMed ID
10835642
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4 January 2017
cites work
Pseudoxanthoma elasticum
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pseudoxanthoma elasticum and its complications: two case reports
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
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7 January 2021
based on heuristic
inferred from DOI database lookup
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ABC Transporters: From Microorganisms to Man
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
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7 January 2021
based on heuristic
inferred from DOI database lookup
MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An inventory of the human ABC proteins
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks--apparent regression with hemodialysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Calciphylaxis with histologic changes of pseudoxanthoma elasticum
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Arterial calcifications in beta-thalassemia.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Renal function in adult beta-thalassemia/Hb E disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
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7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
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7 January 2021
based on heuristic
inferred from DOI database lookup
Membrane topology and glycosylation of the human multidrug resistance-associated protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new structural model for P-glycoprotein
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Principles governing amino acid composition of integral membrane proteins: application to topology prediction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F76102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/76102
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4777806
OpenCitations bibliographic resource ID
4777806
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4777806
PubMed ID
10835642
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4777806
ResearchGate publication ID
12481904
0 references
Springer Nature article ID
10.1038/76102
0 references
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