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Article

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1

17 Oct 2019

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 31630786
DOI: 10.1016/j.ajhg.2019.09.010

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Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1PMID 31630786Read ↗

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of <i>ENG</i> or <i>ACVRL1</i>Semantic proximity Read ↗

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.Semantic proximity Read ↗

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Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases.Semantic proximity Read ↗

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

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Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).Semantic proximity Read ↗

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

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

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1Semantic proximity Read ↗

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

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