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Table 2 MLPA Assay Results for FBN1, TGFβR1, TGFβR2 and COL3A1

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

Subjects Deletion/Duplication Results
Patient 1 FBN1 exons 1-5 deletion
Patient 2 FBN1 full gene deletion
Patient 3 FBN1 full gene deletion
Patient 4 FBN1 full gene deletion
Patient 5 Normal
Patient 6 Normal
Patient 7 Normal
Patient 8 Normal
Patient 9 Normal
Patient 10 Normal
Patient 11 Normal
Patient 12 Normal
Patient 13 Normal
Patient 14 Normal