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G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter.

We observed apparent non-Mendelian behaviour of alleles when genotyping a region in a CpG island at the 5' end of the maternally imprinted human MEST isoform. This region contains three single nucleotide polymorphisms (SNPs) in total linkage disequilibrium, such that only two haplotypes occur i...

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主要な著者: Aaron J Stevens, Selma Stuffrein-Roberts, Simone L Cree, Andrew Gibb, Allison L Miller, Kit Doudney, Alan Aitchison, Michael R Eccles, Peter R Joyce, Vyacheslav V Filichev, Martin A Kennedy
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science (PLoS) 2014-01-01
シリーズ:PLoS ONE
オンライン・アクセス:http://europepmc.org/articles/PMC4249981?pdf=render
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