Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in <i>BBS2</i> Gene in a Family with Bardet-Biedl Syndrome

<div>(a) Excerpt of whole exome sequencing data visualized in the Integrative Genomics Viewer. The novel nonsense mutation in exon 16 of<i> BBS2</i> is shown in the proband. The figure displays the forward strand. (b) The panel from the UCSC genome browser (<a href="http://genome.ucsc.edu/">http://genome.ucsc.edu/</a>) shows multispecies alignment to highlight the strong conservation of the affected Y644 residue.</div>

BioMed Research International

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Figure 2

Figure 2: Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in <i>BBS2</i> Gene in a Family with Bardet-Biedl Syndrome 

BioMed Research International

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

Figure 2