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Article

NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.

BMC pulmonary medicine - 10 Jun 2021

Xu Yu, Zhang Yong-Biao, Liang Li-Jun, Tian Jia-Li, Lin Jin-Ming, Wang Pan-Pan, Li Rong-Hui, Gu Ming-Liang, Gao Zhan-Cheng

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT. METHODS: We performed whole-exome sequencing to identify novel mutations in the pedigree after excluding three previously reported HHT-related genes using Sanger...

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Identifiers

PMID: 34112136
DOI: 10.1186/s12890-021-01524-4
PMCID: PMC8191015

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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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