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Journal Abstract Search

341 related items for PubMed ID: 15086542

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  • 2. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
    Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Götting C.
    Hum Mutat; 2006 Aug; 27(8):831. PubMed ID: 16835894
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  • 5. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
    Hendig D, Schulz V, Eichgrün J, Szliska C, Götting C, Kleesiek K.
    J Mol Med (Berl); 2005 Feb; 83(2):140-7. PubMed ID: 15723264
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  • 9. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
    Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A.
    J Med Genet; 2005 Dec; 42(12):881-92. PubMed ID: 15894595
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  • 10. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
    Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D.
    J Dermatol Sci; 2009 Jun; 54(3):198-204. PubMed ID: 19339160
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  • 11. Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.
    Chassaing N, Martin L, Bourthoumieu S, Calvas P, Hovnanian A.
    Hum Mutat; 2007 Oct; 28(10):1046. PubMed ID: 17823974
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  • 12. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
    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.
    Eur J Hum Genet; 2003 Mar; 11(3):215-24. PubMed ID: 12673275
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  • 13. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
    Cai L, Lumsden A, Guenther UP, Neldner SA, Zäch S, Knoblauch H, Ramesar R, Hohl D, Callen DF, Neldner KH, Lindpaintner K, Richards RI, Struk B.
    J Mol Med (Berl); 2001 Sep; 79(9):536-46. PubMed ID: 11692167
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  • 16. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.
    Wegman JJ, Hu X, Tan H, Bergen AA, Trip MD, Kastelein JJ, Smulders YM.
    Int J Cardiol; 2005 Apr 28; 100(3):389-93. PubMed ID: 15837081
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  • 18. Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
    Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA.
    Genet Test; 2004 Apr 28; 8(3):292-300. PubMed ID: 15727254
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  • 19. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
    Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J.
    J Invest Dermatol; 2006 Apr 28; 126(4):782-6. PubMed ID: 16410789
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