CareLit · DOI-Nachweis · Pneumologie
Mutation in BMPR2 promoter: a ‘second hit’ for manifestation of pulmonary arterial hypertension?
DOI 10.1055/s-0036-1572135
Bibliografische Angaben
Nachweis in CareLit
Autor:innenC Eichstaedt, R Rodríguez Viales, N Benjamin, C Fischer, E Grünig, K Hinderhofer
ZeitschriftPneumologie
Ausgabe02/2016
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited mutations of TGF-β genes, such as the bone morphogenetic protein receptor 2 (BMPR2) and Endoglin (ENG) gene. Additional modifier genes may play a role in disease manifestation and severity. In this study we prospectively assessed two families with known BMPR2 or ENG mutations clinically and genetically and scr…
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Zitierempfehlung
C Eichstaedt, R Rodríguez Viales, N Benjamin, C Fischer, E Grünig, K Hinderhofer (2016) Mutation in BMPR2 promoter: a ‘second hit’ for manifestation of pulmonary arterial hypertension?. Pneumologie (02). https://doi.org/10.1055/s-0036-1572135
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