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. Author manuscript; available in PMC: 2012 May 21.
Published in final edited form as: J Invest Dermatol. 2010 Dec 23;131(3):782–785. doi: 10.1038/jid.2010.384

Figure 1.

Figure 1

Demonstration of the mutation p.R1268Q and conservation of the R1268 in the ABCC6 gene. (a) Genomic DNA was isolated from peripheral blood leukocytes and used as template for PCR amplification of exon 27 of the gene. Direct sequencing of the PCR product revealed either homozygous or heterozygous replacement of arginine (R) by glutamine (Q) reflecting G-to-A nucleotide substitution (arrows) at position 3803 in patients with angioid streaks. (b) Presentation of angioid streaks in patient AS11 (from Li et al, 2010, with permission); (c) The arginine residue in position 1268 of the human protein is conserved in several (Mus musculus, Rattus norvegicus, Canis familiaris, and Gallus gallus) but not all (Equus caballus) vertebrate proteins. The alignment was performed with ClustalW2 Program (http://www.ebi.ac.uk/Tools/Clustalw2).