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Figure 3 | BMC Medical Genetics

Figure 3

From: Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1

Figure 3

Schematic representation of the hybridization results of the different HHT1 families containing deletions in chromosome 9q34.11. In 198, a 3,139-Kb deletion encompassing promoter and exon 1 of ENG; in 71: a 28,744-Kb deletion including promoter and exons 1 to 3 of ENG. In GUM a 100,730 Kb deletion covering from the proximal promoter of ENG, the whole ENG gene, and FPGS, CDK9, SH2D3C genes. In NMEx, a 9,313-Kb deletion of ENG promoter. Arrows mark the direction of transcription of the genes.

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