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Article

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Human mutation - 1 Jun 2006

Lesca Gaëtan, Burnichon Nelly, Raux Grégory, Tosi Mario, Pinson Stéphane, Marion Marie-Jeanne, Babin Emmanuel, Gilbert-Dussardier Brigitte, Rivière Sophie, Goizet Cyril, Faivre Laurence, Plauchu Henri, Frébourg Thierry, Calender Alain, Giraud Sophie

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations and resulting from mutations in two major genes: ENG and ACVRL1. The aim of the present study was to estimate the prevalence of the mutations of ENG and ACVRL1 in HHT, based o...

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Source

Identifiers

PMID: 16705692
DOI: 10.1002/humu.9421

Genes

ENG
ACVRL1
SMAD1
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16705692-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.PMID 16705692Read ↗

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.Semantic proximity Read ↗

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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

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Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.Semantic proximity Read ↗

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.Semantic proximity Read ↗

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