Associated Papers
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.
Darre Haahr P et al.
European Journal of Human Genetics : Ejhg, 2026
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 counselling in a national referral centre for pulmonary hypertension.
Girerd B et al.
The European Respiratory Journal, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 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
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
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