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
Aim: The aim of this retrospective single-centre study was to evaluate whether mutations in the ENG, ACVRL1, and SMAD4 genes were associated with different phenotypes in hereditary haemorrhagic telangiectasia (HHT). Methods: The case records of 21 HHT patients with verified mutations in ENG, ACVRL1,...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Upsala Medical Society
2018-07-01
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| Series: | Upsala Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/03009734.2018.1483452 |