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Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Blood - 2 Sept 2010

Ricard Nicolas, Bidart Marie, Mallet Christine, Lesca Gaetan, Giraud Sophie, Prudent Renaud, Feige Jean-Jacques, Bailly Sabine

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetically inheritable vascular dysplasia caused by mutations in genes encoding receptors of the transforming growth factor-beta (TGF-beta) family: ENG, encoding endoglin (HHT1), and ACVRL1, encoding activin receptor-like kinase-1 (ALK1; HHT2). Our recent discovery of bone morphogenetic protein 9 (BMP9) as the specific ligand for ALK1 allowed...

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Identifiers

PMID: 20501893
DOI: 10.1182/blood-2010-03-276881

Genes

ACVRL1
ENG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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