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Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients

✍ Scribed by A. M. Assis; F. F. Costa; V. R. Arruda; J. M. Annichino-Bizzacchi; C. S. Bertuzzo


Book ID
106252095
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
237 KB
Volume
52
Category
Article
ISSN
1435-232X

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Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage. One of the causative genes is the activin receptor-like kinase-1 (ALK-1) gene located on chromosome 12q13. ALK-1 is an endothelial cell type I rec