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Figure 1 | BMC Medical Genetics

Figure 1

From: Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

Figure 1

FBN1 deletions observed in cohort. In panel A, MLPA results for patient 1 show the deletion of exons 1-5 of the FBN1 gene. In panel B, MLPA results for patient 2 with the deletion encompassing the whole FBN1 gene and an additional control probe (black arrow), located on the DUT (deoxyuridine triphosphatase) gene, 301 Kb upstream from FBN1 exon 1, on chromosome 15q15-q21.1. The same deletion was also found in patients 3 and 4 (data not shown).

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