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387 related items for PubMed ID: 16854481
1. Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum. Kieć-Wilk B, Surdacki A, Dembińska-Kieć A, Michalowska J, Stachura-Dereń M, Dubiel JS, Dudek D, Rakowski T, Szastak G, Bodzioch M, Aslanidis C, Schmitz G. Int J Cardiol; 2007 Mar 20; 116(2):261-2. PubMed ID: 16854481 [Abstract] [Full Text] [Related]
2. 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. Götting C, Schulz V, Hendig D, Grundt A, Dreier J, Szliska C, Brinkmann T, Kleesiek K. Lab Invest; 2004 Jan 20; 84(1):122-30. PubMed ID: 14631379 [Abstract] [Full Text] [Related]
3. 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 [Abstract] [Full Text] [Related]
5. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa. Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T, Fujisawa K, Ishibashi T. Eye (Lond); 2005 Feb 28; 19(2):215-7. PubMed ID: 15184964 [Abstract] [Full Text] [Related]
7. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]. Bergen AA, Plomp AS, Gorgels TG, de Jong PT. Ned Tijdschr Geneeskd; 2004 Aug 07; 148(32):1586-9. PubMed ID: 15382558 [Abstract] [Full Text] [Related]
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 07; 79(9):536-46. PubMed ID: 11692167 [Abstract] [Full Text] [Related]
16. Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum. Katona E, Aslanidis C, Remenyik E, Csikós M, Kárpáti S, Paragh G, Schmitz G. J Dermatol Sci; 2005 Nov 07; 40(2):115-21. PubMed ID: 16183260 [Abstract] [Full Text] [Related]
17. 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 07; 28(10):1046. PubMed ID: 17823974 [Abstract] [Full Text] [Related]
18. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Invest Ophthalmol Vis Sci; 2007 Sep 07; 48(9):4250-6. PubMed ID: 17724214 [Abstract] [Full Text] [Related]