Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <i>HPS3</i> in a Consanguineous Family with Hermansky-Pudlak Syndrome

<div>Genetic analysis of the family. (a) Sanger DNA sequencing chromatogram demonstrates the homozygosity for the mutation (c.1231dupG) of <i>HPS3</i> in the proband. (b) Real-time PCR detects the expression of HPS3 in the skin biopsy of IV-4, IV-1, and IV-3.</div>

BioMed Research International

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Figure 3: Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <i>HPS3</i> in a Consanguineous Family with Hermansky-Pudlak Syndrome 

BioMed Research International

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

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