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Article

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

International journal of molecular medicine - 1 Apr 2006

Argyriou Loukas, Twelkemeyer Stefan, Panchulidze Irakli, Wehner Lars-Erik, Teske Ute, Engel Wolfgang, Nayernia Karim

Abstract excerpt

Hereditary haemorrhagic teleangiectasia (HHT) is an autosomal dominantly inherited disorder characterised by cutaneous and mucosal telangiectasias, epistaxis and arteriovenous malformations in lung, liver, central nervous system and gastrointestinal tract. Mutations in the genes for endoglin (ENG) and for activin A receptor type II-like kinase 1 (ACVRL1) have been identified to cause HHT. We performed molecular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16525724

Genes

ACVRL1
ENG

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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Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.PMID 16525724Read ↗

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Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.Semantic proximity Read ↗

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