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

DOI: 10.1080/03009734.2018.1483452

Keywords: ACVRL1, ENG, genotype, hereditary haemorrhagic telangiectasia, phenotype, SMAD4

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