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Article

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

The Journal of dermatology - 1 Jan 2019

Yaginuma Aya, Itoh Munenari, Akasaka Eijiro, Nakano Hajime, Sawamura Daisuke, Nakagawa Hidemi, Asahina Akihiko

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Identifiers

PMID: 29923633
DOI: 10.1111/1346-8138.14521

Genes

ACVRL1

Variants

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

Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2.PMID 29923633Read ↗

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

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

[Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic 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 ↗

Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.Semantic proximity Read ↗

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

[Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

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

The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.Semantic proximity Read ↗

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1Semantic proximity Read ↗

[Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

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