About: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

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description	articolo scientifico (it) artículu científicu espublizáu en 2000 (ast) vědecký článek publikovaný v roce 2000 (cs) 2000 թուականի Յունիսին հրատարակուած գիտական յօդուած (hyw) 2000 թվականի հունիսին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована в червні 2000 (uk) مقالة علمية (نشرت في يونيو 2000) (ar) vedecký článok (publikovaný 2000/06/01) (sk) wetenschappelijk artikel (gepubliceerd op 2000/06/01) (nl) scientific journal article (en) im Juni 2000 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28118435-7B9F659E-0C33-479D-BEFB-4511B48C28CC
publication date	2000-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28118435-7A807397-8183-4BAF-B49F-8E288D4AACB0
language of work or name	English
cites work	wds:Q28118435-01B33439-1830-4BF3-898D-E5DB4534998B wds:Q28118435-01D7D495-43FA-47F6-82CA-49186852F4E1 wds:Q28118435-186AF426-CD2C-4DA7-AF31-C9009CBFB775 wds:Q28118435-21ABC137-E63A-4195-B592-A3851DBCBBA8 wds:Q28118435-25FCABE6-75D6-4FAD-B2DE-4519699DD4A8 wds:Q28118435-2D751535-4569-44F7-A996-9357B164F1AC wds:Q28118435-3780D08A-37CD-4CDB-8876-03B51D21FED6 wds:Q28118435-3AB3CFEC-6637-47E1-9B0B-F707395E342C wds:Q28118435-407EB029-AABD-4D13-AEA6-66CF9190FA81 wds:Q28118435-607752AC-A9E2-4A69-86E8-50EA96244ED4 wds:Q28118435-6592985D-94EA-404B-91BD-838408C52888 wds:Q28118435-87E7A5A3-6977-40A8-847A-AC04457EB5CB wds:Q28118435-8C6A3AA2-E262-485F-9996-997A0C90CCF3 wds:Q28118435-97223240-6DB7-4877-927A-0F81DAF8C56E wds:Q28118435-983E3347-285F-4B75-BAF0-A0B53E94BF72 wds:Q28118435-AD4A8C0D-50B8-4D8D-B2A6-61B2B0015EAC wds:Q28118435-B5F53870-01E1-4EFC-B92C-C0406389E932 wds:Q28118435-BBCF8AC4-EFD8-4959-A39A-92340FE460FB wds:Q28118435-CCAA4B71-CA9C-4C18-95B7-1855348B6999 wds:Q28118435-FC62CE99-968A-4AE8-BCFF-2B7A61835C30
cites work	RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression ABC Transporters: From Microorganisms to Man An inventory of the human ABC proteins Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts Pseudoxanthoma elasticum A new structural model for P-glycoprotein Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver Principles governing amino acid composition of integral membrane proteins: application to topology prediction Membrane topology and glycosylation of the human multidrug resistance-associated protein Arterial calcifications in beta-thalassemia. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks--apparent regression with hemodialysis A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1 Renal function in adult beta-thalassemia/Hb E disease Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations Calciphylaxis with histologic changes of pseudoxanthoma elasticum Pseudoxanthoma elasticum and its complications: two case reports Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease
author name string	wds:Q28118435-00C4C0DD-94EB-4A2E-A172-B1F521B853CB wds:Q28118435-2BB153DB-5AE3-4653-975F-B522EE085C52 wds:Q28118435-556018D1-66AE-4984-8DC7-8013FB8C91DF wds:Q28118435-56657893-1D73-4FCA-B119-F35BAC21BEBA wds:Q28118435-5D1D53A3-CC0B-4BE4-B40C-455A2CEA80D8 wds:Q28118435-65AE637E-82A5-463E-BEC5-8F2F1E6FC90F wds:Q28118435-9FCD7A78-3A33-4D27-B21B-7AC8EFC9EB13 wds:Q28118435-A50D406A-2FEB-4E8C-8483-40443427C53A wds:Q28118435-B4155D57-75CC-4D9F-AD5E-92698FC73994 wds:Q28118435-D12115B2-D491-445A-B7AD-5D5F7169231B wds:Q28118435-F919F6EE-0683-4B19-9B62-FBED579AD44D
OpenCitations bibliographic resource ID	wds:Q28118435-E181C3AE-96B1-43A3-B702-9F38796E4F27
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4777806
author name string	A. Richards C. D. Boyd F. M. Pope L. Bercovitch I. Pasquali-Ronchetti B. Bacchelli S. Terry A. de Paepe C. Tschuch K. Csiszar O. Le Saux
OpenCitations bibliographic resource ID	4777806
rdfs:label	Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (en) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (nl) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (ast)
skos:prefLabel	Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (en) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (nl) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (ast)
name	Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (en) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (nl) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (ast)
author	wds:Q28118435-419A4691-D6CE-4304-A88E-78AC08E95570 wds:Q28118435-BB07E82E-E73A-4795-AB67-70E606C31C9E
author	Daniela Quaglino Zsolt Urban
title	wds:Q28118435-D7533AFD-3901-4B81-8519-130231069325
title	Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (en)
page(s)	wds:Q28118435-77FBC4C4-0019-4A8D-A6BB-F3E6942A9B81
page(s)	223–227
instance of	wds:Q28118435-C232BD6B-3BEA-4D68-9003-C5EE7254D60E
instance of	scholarly article

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