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Article

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.

Translational stroke research - 1 Jun 2013

Boshuisen Kim, Brundel Manon, de Kovel Carolien G F, Letteboer Tom G, Rinkel Gabriel J E, Westermann Cornelis J J, Kim Helen, Pawlikowska Ludmila, Koeleman Bobby P C, Klijn Catharina J M

Abstract excerpt

We aimed to replicate the association of the IVS3-35A>G polymorphism in the activin receptor-like kinase (ACVRL) 1 gene and the 207G>A polymorphism in the endoglin (ENG) gene with sporadic brain arteriovenous malformations (BAVM) in Dutch BAVM patients. In addition, we assessed whether these polymorphisms contribute to the risk of BAVM in patients with hereditary haemorrhagic telangiectasia type 1 (HHT1). We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24323303
DOI: 10.1007/s12975-012-0231-4
PMCID: PMC4038301

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.PMID 24323303Read ↗

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Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?Semantic proximity Read ↗

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