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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

Fig. 1

Graph summarizing methylation ratio ranges detected by MS-MLPA using a 9-point serial dilution of gDNA from a PHP patient affected by a deletion of the GNAS locus on the maternal allele, from 0% (wild type, hemimethylated gDNA) to 100% (severe LOI) GNAS-deleted DNA. On the Y axis, mean ± SD observed methylation ratios are reported, while on the X axis, the 12 analyzed CpGs representative of GNAS DMRs. The red line in the Y axis highlights the 0.5 methylation ratio value expected in wild-type samples

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