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. 2013 Feb 6;21(10):1169–1172. doi: 10.1038/ejhg.2013.8

Figure 1.

Figure 1

Genetic findings in BHD and CS cases. (a) FLCN sequence showing heterozygosity of c.347dupA mutation in the oncocytic tumour tissue (ON) of BHD patient compared to a control sequence obtained on a healthy subject (Ctr). (b) Real-time PCR copy number assay performed on exon 4 and exon 14 of FLCN confirming persistence of two alleles in the BHD oncocytoma. (c) Validation of LOH of PTEN in BHD oncocytoma by real-time PCR. (d) Electropherogram of FLCN showing SNP rs8065832 to be heterozygous in the blood and papillary thyroid carcinoma (PTC) of the CS patient, whereas being homozygous in the respective oncocytoma (ON). (e) Real-time PCR copy number assay confirming LOH of FLCN in the oncocytoma developed by the CS patient. Mutated positions are indicated in bold and underlined.