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Article

[Gene identification in a family of hereditary hemorrhagic telangiectasia].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Jun 2018

Wang L L, Zhang Z H, Gu C H, Lin L, Wang T R, Hao C L

Abstract excerpt

Objective: To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. Methods: A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

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Identifiers

PMID: 30032563
DOI: 10.3760/cma.j.issn.0253-2727.2018.06.007
PMCID: PMC7342918

Genes

ACVRL1
ENG
SMAD4

Variants

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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