Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
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DOI: 10.1016/j.gene.2019.02.016
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a vascular rare disease characterized by nose and gastrointestinal bleeding, skin and mucosa telangiectasias, and arteriovenous malformations in internal organs. HHT shows an autosomal dominant inheritance and a worldwide prevalence… read more here.
Keywords: mutation; hereditary hemorrhagic; pellucida module; hemorrhagic telangiectasia ... See more keywords