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. 2010 Oct 14;6(10):e1001157. doi: 10.1371/journal.pgen.1001157

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This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.

This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.

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A, The genomic organization of the human chromosome 5q15 region containing ERAP1 and ERAP2 is included at the top. The two haplotype-specific ERAP2 spliced forms are shown for Haplotype A (in blue) and Haplotype B (in purple). The different alleles of rs2248374 are shown as a blue or purple base position, respectively. The red boxes represent the premature stop codons in the Haplotype B mRNA. B, PCR amplification of cDNA across the exon 10 splice junction (see Materials and Methods) from the indicated 16 LCLs, with the haplotype status of each cell indicated as homozygote (AA or BB) or heterozygote (AB). A negative control PCR, with no DNA template, was also performed (water).