Polymorphisms in ACVRL1 and Endoglin Genes are Not Associated with Sporadic and HHT-Related Brain AVMs in Dutch Patients
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 genotyped 143 Dutch sporadic BAVM patients and 360 healthy volunteers for four variants in the ACVRL1 gene including IVS3-35A>G and two variants in the ENG gene including 207G>... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2013 |
Reihe/Periodikum: | Translational Stroke Research, vol 4, iss 3 |
Verlag/Hrsg.: |
eScholarship
University of California |
Schlagwörter: | Pharmacology and Pharmaceutical Sciences / Biomedical and Clinical Sciences / Genetics / Pediatric / Neurosciences / 2.1 Biological and endogenous factors / Aetiology / Activin Receptors / Type II / Antigens / CD / Case-Control Studies / Endoglin / Female / Genotype / Humans / Intracranial Arteriovenous Malformations / Male / Middle Aged / Netherlands / Pedigree / Polymorphism / Single Nucleotide / Receptors / Cell Surface / Telangiectasia / Hereditary Hemorrhagic / Arteriovenous malformations / Neurogenetics / Cerebrovascular disease / Clinical Sciences / Public Health and Health Services |
Sprache: | unknown |
Permalink: | https://search.fid-benelux.de/Record/base-28747659 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://escholarship.org/uc/item/76g2f81d |