Genes and pulmonary arterial hypertension.

Abstract excerpt

Familial pulmonary arterial hypertension (FPAH) was first described more than 50 years ago. Before the availability of modern genetic tools, studies of the genealogies demonstrated that these cases segregated as an autosomic dominant trait, with an incomplete penetrance and a genetic anticipation phenomenon by which age at onset of the disease is decreasing in the subsequent generations. Germline mutations in the...

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