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
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Hume AN et al.
Molecular and Cellular Biochemistry, 2013
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
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