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Article

TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.

Journal of the American Heart Association - 1 Feb 2021

Shinya Yoshiki, Hiraide Takahiro, Momoi Mizuki, Goto Shinichi, Suzuki Hisato, Katsumata Yoshinori, Kurebayashi Yutaka, Endo Jin, Sano Motoaki, Fukuda Keiichi, Kosaki Kenjiro, Kataoka Masaharu

Abstract excerpt

Background Recently, some studies reported the pulmonary artery hypertension (PAH)-associated genes. However, a majority of patients with familial or sporadic PAH lack variants in the known pathogenic genes. In this study, we investigated the new causative gene variants associated with PAH. Methods and Results Whole-exome sequencing in 242 Japanese patients with familial or sporadic PAH identified a heterozygous...

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Identifiers

PMID: 33586470
DOI: 10.1161/JAHA.120.019245
PMCID: PMC8174299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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