A new nonsense mutation of <i>SMAD8</i> associated with pulmonary arterial hypertension

2009230 citationsJournal Article

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We describe the first mutation in SMAD8 in a patient with IPAH. Our findings suggest the involvement of SMAD8 in the pathogenesis of PAH.

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Published in: Journal of Medical Genetics

Volume 46, Issue 5, pp. 331-337

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