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Fig. 5 | BMC Medical Genomics

Fig. 5

From: Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

Fig. 5

Identification of the breakpoints in Patient 2. Schematic representation of the genome in the deletion region as well as an overview of the results of Sanger sequencing analyses. The open arrow below the gene name indicates the direction of transcription. Exons are represented by rectangles and labeled with the corresponding number. The dotted line marks the position of the breakpoint. Nucleotide positions are described in relation to the human genome reference sequence GRCh38

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BMC Medical Genomics

ISSN: 1755-8794

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