Associated Papers
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf
Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.
Kim BG et al.
Clinical and Experimental Otorhinolaryngology, 2021
33677851 (PubMed )
Supplement: ceo-2020-02124-suppl.pdf
OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.
Fu Y et al.
Molecular Cell, 2021
Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.
Du J et al.
Journal of Thrombosis and Thrombolysis, 2015
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Gedge F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
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