Whole-Exome Sequencing Reveals TopBP1 as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension

Rationale: Idiopathic pulmonary arterial hypertension (IPAH) is a life-threatening disorder characterized by progressive loss of pulmonary microvessels. Although mutations in the bone morphogenetic receptor 2 (BMPR2) are found in 80% of heritable and ∼15% of patients with IPAH, their low penetrance...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Am J Respir Crit Care Med
Hoofdauteurs: de Jesus Perez, Vinicio A., Yuan, Ke, Lyuksyutova, Maria A., Dewey, Frederick, Orcholski, Mark E., Shuffle, Eric M., Mathur, Maya, Yancy, Luke, Rojas, Vanessa, Li, Caiyun Grace, Cao, Aiqin, Alastalo, Tero-Pekka, Khazeni, Nayer, Cimprich, Karlene A., Butte, Atul J., Ashley, Euan, Zamanian, Roham T.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Thoracic Society 2014
Onderwerpen:
Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4225850/
https://ncbi.nlm.nih.gov/pubmed/24702692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.201310-1749OC
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items