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Article

Identification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next-generation sequencing.

Journal of clinical laboratory analysis - 1 Feb 2022

Xu Xiao, Wang Xin, Yang Guo-Can, Liu Qi

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a hemodynamic state that is characterized by pulmonary vasoconstriction and vascular remodeling, leading to a continuous increase in mean pulmonary arterial pressure, and eventually right heart failure. Mutations of the bone morphogenetic protein type II receptor (BMPR2) gene are the most common genetic cause of PAH. METHODS: A 52-year-old woman was admitted to...

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

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Share to High-Throughput Nucleotide Sequencing

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Share to Pulmonary Arterial Hypertension

Source

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Identifiers

PMID: 34953004
DOI: 10.1002/jcla.24183
PMCID: PMC8842159

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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