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Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Le Saux O, et al. Among authors: bercovitch l. Genomics. 1999 Nov 15;62(1):1-10. doi: 10.1006/geno.1999.5925. Genomics. 1999. PMID: 10585762
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Le Saux O, et al. Among authors: bercovitch l. Nat Genet. 2000 Jun;25(2):223-7. doi: 10.1038/76102. Nat Genet. 2000. PMID: 10835642
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. Le Saux O, et al. Among authors: bercovitch l. Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31. Am J Hum Genet. 2001. PMID: 11536079 Free PMC article.
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
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. Pfendner EG, et al. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.
101 results