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Article

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

Journal of medical genetics - 1 Jul 2002

Olivieri C, Mira E, Delù G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C

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Identifiers

PMID: 12114496
DOI: 10.1136/jmg.39.7.e39
PMCID: PMC1735165

Genes

ACVRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.PMID 12114496Read ↗

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2.Semantic proximity Read ↗

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

A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.Semantic proximity Read ↗

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.Semantic proximity Read ↗

Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic TelangiectasiaSemantic proximity Read ↗

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies.Semantic proximity Read ↗

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.Semantic proximity Read ↗

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

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.Semantic proximity Read ↗

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