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Figure 2 | BMC Medical Genetics

Figure 2

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

Figure 2

MLPA results of the 4 different families analyzed in the present work. A) Control and chromatogram representing the family with promoter deletion (NMEx) and with promoter and exon 1 deletion (198). B) Control chromatogram and family 71 exhibiting deletion of promoter and exons from 1–3. C) Family GUM with whole deletion of ENG gene including the promoter. In the chromatograms the height of the peaks is proportional to the amplification of the corresponding exon probe. The affected exons are indicated by arrows in each case.

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BMC Medical Genetics

ISSN: 1471-2350

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