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Figure 1 | BMC Medical Genetics

Figure 1

From: A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report

Figure 1

Sequence profiles of exon 1 to intron 1 of the VHL gene. The sequence of exon 1 to intron 1 of the VHL gene is shown in double- stranded form at the top. We compared DNA sequence from the cancerous tissue (A) and the peripheral blood (B) of the SCC patient to the non-cancerous tissue of a control patient (C). We observed a heterozygous c. 340 + 5 G > C point mutation of the VHL gene in the DNA from the cancerous tissue (A) and peripheral blood (B) of the patient with SCC of the tongue, but not in the control (C). The DNA from the peripheral blood of the patient was also sequenced in the reverse direction (D).

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BMC Medical Genetics

ISSN: 1471-2350

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