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
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Mallet C et al.
Human Molecular Genetics, 2015
Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.
Townson SA et al.
The Journal of Biological Chemistry, 2012
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.
Scotti C et al.
Plos One, 2011
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G et al.
Human Mutation, 2006
Select a paper to view details