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Article

Genetic variants in a Polish population of patients with pulmonary arterial hypertension: sequencing of BMPR2, ALK1, and ENG genes.

Kardiologia polska - 1 Jan 2018

Uznańska-Loch Barbara, Wikło Kamil, Kulczycka-Wojdala Dominika, Szymańska Bożena, Chrzanowski Łukasz, Wierzbowska-Drabik Karina, Trzos Ewa, Kasprzak Jarosław D, Kurpesa Małgorzata

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with a very serious prognosis. It seems that mutations in genes related to transforming growth factor-b signalling pathway are often related to the development of the disease. No study covers this problem in a Polish population. AIM: To screen for genetic mutations in a Polish cohort of patients with pulmonary hypertension, especially with...

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Source

Identifiers

PMID: 29350394
DOI: 10.5603/KP.a2018.0034

Genes

BMPR2
ENG
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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