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Table 2 Overview of cases with large deletions in FBN1 gene

From: Identification of gross deletions in FBN1 gene by MLPA

Patient No.

Age (y)

Deletion breakpoints

Deletion (FBN1 exon affected)

Phenotype

AD234

24

g.48749026-48753819

FBN1: exon 43

Classic MFS

AD392

38

g.48724560-48722281

FBN1: exon 56

Classic MFS

AD533-1

5

g.48727672-48726338

FBN1: exon 54

Suspected MFS

AD680-1

14

g.48734801-48730690

FBN1: exon 50

Suspected MFS

AD437

37

NA

FBN1: exon 44–66

Classic MFS

  1. All nucleotide positions are represented in relation to the human genome reference sequence (GRCh37/hg19), and position + 1 corresponds to the first nucleotide of the FBN1 reference sequence (GenBank NC_000015.9) at the genomic DNA (g) level
  2. NA not available
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Human Genomics

ISSN: 1479-7364