Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of<i> LRRC6</i> in a Chinese Primary Ciliary Dyskinesia Patient

<div>The analysis of two mutations in<i> LRRC6</i>. (a) Alignment of multiple LRRC6 protein sequences across species. The N61 affected amino acid locates in the highly conserved amino acid region in different mammals (from Ensembl). Red column shows the N61 site. (b) RNA expression of<i> LRRC6</i> affected the proband and controls. Mean expression (±SEM) of LRRC6 in the proband and control measured by Real-Time qPCR.</div>

BioMed Research International

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Figure 2: Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of<i> LRRC6</i> in a Chinese Primary Ciliary Dyskinesia Patient 

BioMed Research International

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

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