Associated Papers
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME et al.
Blood, 2024
38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Clinical Genetics, 2014
Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Plos One, 2014
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.
Lux A et al.
Orphanet Journal of Rare Diseases, 2013
Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.
Govani FS et al.
Molecular Syndromology, 2013
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G et al.
European Journal of Human Genetics : Ejhg, 2008
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
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