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[Pulmonary arterial hypertension in a pedigree with bone morphogenetic protein receptor 2 c.282 mutation].

Zhonghua xin xue guan bing za zhi - 24 Jul 2023

Song J R, Zhang J W, Li B, Deng M J, Cao Y S

Abstract excerpt

家族性遗传性肺动脉高压是一种罕见的遗传病，骨形态发生蛋白受体2（BMPR2）基因突变是其主要病因之一。该文报道一家系中3名成员被确诊为肺动脉高压（PAH）。全外显子测序分析结果显示，这3例PAH患者均存在一个新的BMPR2无义突变（c.282T>A，p.Cys94Ter）。.

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Share to Bone Morphogenetic Protein Receptors, Type II
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Source

Identifiers

PMID: 37460431
DOI: 10.3760/cma.j.cn112148-20220620-00484

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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