of Plomp, Mol Vis 2008; 14:118-124.

Appendix 1. All ABCC6 mutations which are implicated in pseudoxanthoma elasticum

To access the data, click or select the words “Appendix 1”. This will initiate the download of a compressed (zip) archive that contains the file. This file should be uncompressed with an appropriate program (the particular program will depend on your operating system). We found mutations in 203 alleles. The fourth column shows the frequency of the different mutations among the alleles. Novel mutations are bold and underlined.

References found only in Appendix:

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33. Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T, Fujisawa K, Ishibashi T. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa. Eye 2005; 19:215–7.15184964

34. Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Hum Mutat 2001; 18:85.11439001

35. 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; 68:642–52.11179012

36. 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; 40:115–21.16183260