%0 Journal Article %T Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler¡¯s Disease, Uppsala University Hospital %A Honar Cherif %A Torbj£¿rn Karlsson %J Archive of "Upsala Journal of Medical Sciences". %D 2018 %R 10.1080/03009734.2018.1483452 %K ACVRL1 %K ENG %K genotype %K hereditary haemorrhagic telangiectasia %K phenotype %K SMAD4 %U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198721/