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Article

A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension.

Journal of human genetics - 1 Dec 2013

Aimi Yuki, Hirayama Tomomi, Kataoka Masaharu, Momose Yuichi, Nishimaki Saiko, Matsushita Kenichi, Yoshino Hideaki, Satoh Toru, Gamou Shinobu

Abstract excerpt

The presence of genetic rearrangements of bone morphogenetic protein type 2 receptor (BMPR2) was identified in pulmonary arterial hypertension (PAH) patients as the deletion or duplication of one or more exons of the gene. We recently investigated the deletion break points in exonic deletions of BMPR2 in two Japanese familial cases with PAH, and found that these were Alu-mediated via either non-allelic homologous...

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Source

Identifiers

PMID: 24132125
DOI: 10.1038/jhg.2013.100

Genes

BMPR2
PAH

Provenance

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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