Genetics and the molecular pathogenesis of pulmonary arterial hypertension.

Abstract excerpt

Mutations in the bone morphogenetic protein type II receptor (BMPR-II) gene (BMPR2) have been recognized to cause heritable PAH (HPAH). Recent studies focused on novel BMPR2 mutations in the Asian population and provided evidence for genotype-phenotype correlations. A candidate gene strategy has suggested additional mutations in SMAD, TBX4 and TSP1 in PAH. A genome-wide association study (GWAS) identified an...

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