Penetrance of Pulmonary Arterial Hypertension is modulated by the expression of normal BMPR2 allele

Familial pulmonary arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2). FPAH is inherited as an autosomal dominant trait and shows incomplete penetrance in that many with BMPR2 mutations do not develop FPAH s...

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Hauptverfasser: Hamid, Rizwan, Cogan, Joy D., Hedges, Lora K., Austin, Eric, Phillips, John A., Newman, John H., Loyd, James E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2663001/
https://ncbi.nlm.nih.gov/pubmed/19206171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20922
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