A heterozygous caveolin-1 c.474delA mutation has been identified in a family with heritable pulmonary arterial hypertension ( PAH ) .
O O B-GeneOrGeneProduct B-SequenceVariant O O O O O O O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O B-DiseaseOrPhenotypicFeature O O