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Fig. 3 | BMC Medical Genomics

Fig. 3

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

Fig. 3

Identification of the breakpoints in Patient 1. 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 specified by bars and labeled with the corresponding number. The dotted line marks the position of the breakpoints. The left side of the dotted line represents the sequence of FBN1 intron 6; the other side of the dotted line represents the sequence of CEP152 intron 12. Nucleotide positions are described in relation to the human genome reference sequence GRCh38.WGS data are displayed in the National Center for Biotechnology Information (NCBI https://www.ncbi.nlm.nih.gov/bioproject)

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BMC Medical Genomics

ISSN: 1755-8794

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