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Article

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

PloS one - 1 Jan 2015

Alaa El Din Ferdos, Patri Sylvie, Thoreau Vincent, Rodriguez-Ballesteros Montserrat, Hamade Eva, Bailly Sabine, Gilbert-Dussardier Brigitte, Abou Merhi Raghida, Kitzis Alain

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia syndrome (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant vascular disorder. Two most common forms of HHT, HHT1 and HHT2, have been linked to mutations in the endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1or ALK1) genes respectively. This work was designed to examine the pathogenicity of 23 nucleotide variations in ACVRL1 gene detected in more...

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Identifiers

PMID: 26176610
DOI: 10.1371/journal.pone.0132111
PMCID: PMC4503601

Genes

ACVRL1
ENG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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