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

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

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

ISSN: 1471-2350