Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.
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DOI: 10.1016/j.gene.2018.01.007
Abstract: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or… read more here.
Keywords: hht; hereditary hemorrhagic; binding site; hemorrhagic telangiectasia ... See more keywords
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
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DOI: 10.1186/s13023-018-0850-2
Abstract: Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to… read more here.
Keywords: outcome measures; hht; hereditary haemorrhagic; haemorrhagic telangiectasia ... See more keywords