A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Significant overrepresentation of loci involved in the 5-Hydroxytryptamine degradation pathway was finally found among genes showing variants in the proband belonging to trio 4, coupled with barely significant results pointing to an enrichment of loci exerting a molecular function ascribable to oxidoreductase activity (i.e. acting on the aldehyde or oxo group of donors).

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