Article
First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension.
Clinical science (London, England : 1979) - 25 Apr 2017
Eichstaedt Christina A, Song Jie, Viales Rebecca Rodríguez, Pan Zixuan, Benjamin Nicola, Fischer Christine, Hoeper Marius M, Ulrich Silvia, Hinderhofer Katrin, Grünig Ekkehard
Abstract excerpt
Heritable pulmonary arterial hypertension (HPAH) is an autosomal dominantly inherited disease caused by mutations in the bone morphogenic protein receptor 2 (BMPR2) gene and/or genes of its signalling pathway in approximately 85% of patients. We clinically and genetically analysed an HPAH family without mutations in previously described pulmonary arterial hypertension (PAH) genes. Clinical assessment included...
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