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Article

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Human mutation - 1 Apr 2004

Lesca Gaëtan, Plauchu Henri, Coulet Florence, Lefebvre Sylvain, Plessis Ghislaine, Odent Sylvie, Rivière Sophie, Leheup Bruno, Goizet Cyril, Carette Marie-France, Cordier Jean-François, Pinson Stéphane, Soubrier Florent, Calender Alain, Giraud Sophie

Abstract excerpt

Hereditary hemmorrhagic telangiectasia (HHT, or Osler-Rendu-Weber syndrome) is an autosomal dominant disease characterized by arteriovenous malformations, affecting 1 out of 10,000 individuals in France. The disease is caused by mutations of two genes: ENG and ALK1 (ACVRL1). We screened the codin...

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Source

Identifiers

PMID: 15024723
DOI: 10.1002/humu.20017

Genes

ENG
ACVRL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15024723-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.PMID 15024723Read ↗

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

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

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

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

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patientsSemantic proximity Read ↗

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Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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