ABCC6 p.Arg1141*

ClinVar: c.3421C>T , p.Arg1141* D , Pathogenic
LOVD-ABCC6: p.Arg1141* D

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[hide] Yu XQ, Xue CC, Wang G, Zhou SF
Multidrug resistance associated proteins as determining factors of pharmacokinetics and pharmacodynamics of drugs.
Curr Drug Metab. 2007 Dec;8(8):787-802., [PMID:18220559] [PubMed]

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[hide] Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6., 2000-05-23 [PMID:10811882] [PubMed]

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[hide] Germain DP, Perdu J, Remones V, Jeunemaitre X
Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.
Biochem Biophys Res Commun. 2000 Aug 2;274(2):297-301., 2000-08-02 [PMID:10913334] [PubMed]

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[hide] Ringpfeil F, Lebwohl MG, Uitto J
Abstracts: mutations in the MRP6 gene cause pseudoxanthoma elasticum
J Invest Dermatol. 2000 Aug;115(2):332., [PMID:10951257] [PubMed]

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[hide] Ringpfeil F, Nakano A, Uitto J, Pulkkinen L
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
Am J Hum Genet. 2001 Mar;68(3):642-52. Epub 2001 Feb 9., [PMID:11179012] [PubMed]

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[hide] Uitto J, Pulkkinen L, Ringpfeil F
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Trends Mol Med. 2001 Jan;7(1):13-7., [PMID:11427982] [PubMed]

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[hide] Ringpfeil F, Pulkkinen L, Uitto J
Molecular genetics of pseudoxanthoma elasticum.
Exp Dermatol. 2001 Aug;10(4):221-8., [PMID:11493310] [PubMed]

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[hide] Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31., [PMID:11536079] [PubMed]

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[hide] Pulkkinen L, Nakano A, Ringpfeil F, Uitto J
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Hum Genet. 2001 Sep;109(3):356-65., [PMID:11702217] [PubMed]

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[hide] Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, Zwinderman AH, Kastelein JJ, Feskens EJ, Bergen AA
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.
Circulation. 2002 Aug 13;106(7):773-5., 2002-08-13 [PMID:12176944] [PubMed]

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[hide] Bradbury J
Mutation affecting arterial elasticity associated with premature heart disease.
Lancet. 2002 Aug 10;360(9331):468., 2002-08-10 [PMID:12241726] [PubMed]

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[hide] Le Saux O, Beck K, Sachsinger C, Treiber C, Goring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
Hum Genet. 2002 Oct;111(4-5):331-8. Epub 2002 Sep 7., [PMID:12384774] [PubMed]

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[hide] Maccari F, Gheduzzi D, Volpi N
Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum.
Clin Chem. 2003 Mar;49(3):380-8., [PMID:12600949] [PubMed]

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[hide] Germain DP, Boutouyrie P, Laloux B, Laurent S
Arterial remodeling and stiffness in patients with pseudoxanthoma elasticum.
Arterioscler Thromb Vasc Biol. 2003 May 1;23(5):836-41. Epub 2003 Mar 20., 2003-05-01 [PMID:12649085] [PubMed]

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[hide] Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Eur J Hum Genet. 2003 Mar;11(3):215-24., [PMID:12673275] [PubMed]

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[hide] Hu X, Peek R, Plomp A, ten Brink J, Scheffer G, van Soest S, Leys A, de Jong PT, Bergen AA
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9., [PMID:12714611] [PubMed]

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[hide] Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
Surv Ophthalmol. 2003 Jul-Aug;48(4):424-38., [PMID:12850230] [PubMed]

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[hide] Sinko E, Ilias A, Ujhelly O, Homolya L, Scheffer GL, Bergen AA, Sarkadi B, Varadi A
Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.
Biochem Biophys Res Commun. 2003 Aug 22;308(2):263-9., 2003-08-22 [PMID:12901863] [PubMed]

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[hide] Morcher M, Hausser I, Brandt T, Grond-Ginsbach C
Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.
J Neurol. 2003 Aug;250(8):983-6., [PMID:12928920] [PubMed]

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[hide] Gotting C, Schulz V, Hendig D, Grundt A, Dreier J, Szliska C, Brinkmann T, Kleesiek K
Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
Lab Invest. 2004 Jan;84(1):122-30., [PMID:14631379] [PubMed]

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[hide] Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D, Bacchelli B, Pasquali Ronchetti I
Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients.
Matrix Biol. 2003 Nov;22(6):491-500., [PMID:14667841] [PubMed]

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[hide] Annovazzi L, Viglio S, Gheduzzi D, Pasquali-Ronchetti I, Zanone C, Cetta G, Iadarola P
High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum.
Eur J Clin Invest. 2004 Feb;34(2):156-64., [PMID:14764080] [PubMed]

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[hide] Chassaing N, Martin L, Mazereeuw J, Barrie L, Nizard S, Bonafe JL, Calvas P, Hovnanian A
Novel ABCC6 mutations in pseudoxanthoma elasticum.
J Invest Dermatol. 2004 Mar;122(3):608-13., [PMID:15086542] [PubMed]

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[hide] Plomp AS, Hu X, de Jong PT, Bergen AA
Does autosomal dominant pseudoxanthoma elasticum exist?
Am J Med Genet A. 2004 May 1;126A(4):403-12., 2004-05-01 [PMID:15098239] [PubMed]

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[hide] Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D, Ronchetti IP
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Hum Mutat. 2004 Nov;24(5):438-9., [PMID:15459974] [PubMed]

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[hide] Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W, Todo Y, Nozue T, Uno Y, Hifumi S, Mabuchi H
Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
Intern Med. 2004 Dec;43(12):1171-6., [PMID:15645653] [PubMed]

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[hide] Hendig D, Schulz V, Eichgrun J, Szliska C, Gotting C, Kleesiek K
New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
J Mol Med (Berl). 2005 Feb;83(2):140-7. Epub 2004 Nov 10., [PMID:15723264] [PubMed]

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[hide] Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Genet Test. 2004 Fall;8(3):292-300., [PMID:15727254] [PubMed]

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[hide] Wegman JJ, Hu X, Tan H, Bergen AA, Trip MD, Kastelein JJ, Smulders YM
Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.
Int J Cardiol. 2005 Apr 28;100(3):389-93., 2005-04-28 [PMID:15837081] [PubMed]

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[hide] Gorgels TG, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT, van Kuppevelt TH, Levelt CN, de Wolf A, Loves WJ, Scheper RJ, Peek R, Bergen AA
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.
Hum Mol Genet. 2005 Jul 1;14(13):1763-73. Epub 2005 May 11., 2005-07-01 [PMID:15888484] [PubMed]

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[hide] Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
J Med Genet. 2005 Dec;42(12):881-92. Epub 2005 May 13., [PMID:15894595] [PubMed]

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[hide] Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Hum Mutat. 2005 Sep;26(3):235-48., [PMID:16086317] [PubMed]

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[hide] Schulz V, Hendig D, Schillinger M, Exner M, Domanovits H, Raith M, Szliska C, Kleesiek K, Gotting C
Analysis of sequence variations in the ABCC6 gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum.
J Vasc Res. 2005 Sep-Oct;42(5):424-32. Epub 2005 Aug 26., [PMID:16127278] [PubMed]

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[hide] Gotting C, Hendig D, Adam A, Schon S, Schulz V, Szliska C, Kuhn J, Kleesiek K
Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis.
J Mol Med (Berl). 2005 Dec;83(12):984-92. Epub 2005 Aug 24., [PMID:16133423] [PubMed]

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[hide] Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N, Li K, Pulkkinen L, Birk DE, Sundberg JP, Uitto J
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.
Mol Cell Biol. 2005 Sep;25(18):8299-310., [PMID:16135817] [PubMed]

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[hide] Katona E, Aslanidis C, Remenyik E, Csikos M, Karpati S, Paragh G, Schmitz G
Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum.
J Dermatol Sci. 2005 Nov;40(2):115-21. Epub 2005 Sep 23., [PMID:16183260] [PubMed]

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[hide] Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
J Invest Dermatol. 2006 Apr;126(4):782-6., [PMID:16410789] [PubMed]

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[hide] Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, Hinek A
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.
J Invest Dermatol. 2006 Jul;126(7):1497-505. Epub 2006 Mar 16., [PMID:16543900] [PubMed]

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[hide] Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG
ABCC6 and pseudoxanthoma elasticum.
Pflugers Arch. 2007 Feb;453(5):685-91. Epub 2006 Apr 8., [PMID:16604369] [PubMed]

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[hide] Cattan D, Bouali B, Chassaing N, Martinez F, Dupont JM, Dode C, Martin L
Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.
Br J Dermatol. 2006 Jun;154(6):1190-3., [PMID:16704654] [PubMed]

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[hide] Kiec-Wilk B, Surdacki A, Dembinska-Kiec A, Michalowska J, Stachura-Deren M, Dubiel JS, Dudek D, Rakowski T, Szastak G, Bodzioch M, Aslanidis C, Schmitz G
Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.
Int J Cardiol. 2007 Mar 20;116(2):261-2. Epub 2006 Jul 18., 2007-03-20 [PMID:16854481] [PubMed]

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[hide] Querques G, delle Noci N
Fundus autofluorescence.
Ophthalmology. 2007 Jun;114(6):1233; author reply 1233., [PMID:17544787] [PubMed]

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[hide] Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6., [PMID:17617515] [PubMed]

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[hide] Bowen AR, Gotting C, LeBoit PE, McCalmont TH
Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.
J Cutan Pathol. 2007 Oct;34(10):777-81., [PMID:17880583] [PubMed]

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[hide] Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Hum Mutat. 2008 Jan;29(1):205., [PMID:18157818] [PubMed]

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[hide] Plomp AS, Florijn RJ, Ten Brink J, Castle B, Kingston H, Martin-Santiago A, Gorgels TG, de Jong PT, Bergen AA
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Mol Vis. 2008 Jan 24;14:118-24., [PMID:18253096] [PubMed]

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[hide] Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
J Invest Dermatol. 2009 Mar;129(3):553-63. Epub 2008 Sep 18., [PMID:18800149] [PubMed]

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[hide] Hendig D, Langmann T, Kocken S, Zarbock R, Szliska C, Schmitz G, Kleesiek K, Gotting C
Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis.
Lab Invest. 2008 Dec;88(12):1303-15. Epub 2008 Oct 20., [PMID:18936737] [PubMed]

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[hide] Finger RP, Charbel Issa P, Ladewig MS, Gotting C, Szliska C, Scholl HP, Holz FG
Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.
Surv Ophthalmol. 2009 Mar-Apr;54(2):272-85., [PMID:19298904] [PubMed]

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[hide] Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D
Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
J Dermatol Sci. 2009 Jun;54(3):198-204. Epub 2009 Mar 31., [PMID:19339160] [PubMed]

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[hide] Koblos G, Andrikovics H, Prohaszka Z, Tordai A, Varadi A, Aranyi T
The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.
Genet Test Mol Biomarkers. 2010 Feb;14(1):75-8., [PMID:19929409] [PubMed]

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[hide] Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
J Hum Genet. 2010 Feb;55(2):112-7. Epub 2010 Jan 15., [PMID:20075945] [PubMed]

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[hide] Li Q, Torok L, Kocsis L, Uitto J
Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.
Br J Dermatol. 2010 Sep;163(3):641-3. doi: 10.1111/j.1365-2133.2010.09856.x. Epub 2010 May 11., [PMID:20491760] [PubMed]

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[hide] Larusso J, Ringpfeil F, Uitto J
Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.
Clin Transl Sci. 2010 Dec;3(6):295-8. doi: 10.1111/j.1752-8062.2010.00243.x., [PMID:21167005] [PubMed]

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[hide] Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Gotting C
Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum.
Clin Chem. 2006 Feb;52(2):227-34. Epub 2005 Dec 29., [PMID:16384891] [PubMed]

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[hide] Ladewig MS, Gotting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG
[Pseudoxanthoma elasticum].
Ophthalmologe. 2006 Jun;103(6):537-51; quiz 552-3., [PMID:16763870] [PubMed]

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[hide] Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Gotting C
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Hum Mutat. 2006 Aug;27(8):831., [PMID:16835894] [PubMed]

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[hide] Shi Y, Terry SF, Terry PF, Bercovitch LG, Gerard GF
Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.
J Mol Diagn. 2007 Feb;9(1):105-12., [PMID:17251343] [PubMed]

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