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
Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease).
Umemura H et al.
Acta Medica Okayama, 2020
Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.
Saleh M et al.
Prenatal Diagnosis, 2016
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
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
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