jueves, 24 de septiembre de 2020

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia | Orphanet Journal of Rare Diseases | Full Text

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia | Orphanet Journal of Rare Diseases | Full Text



Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1)ACVRL1 (HHT2) and, to a le...
Authors:Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender and Gaëtan Lesca
Citation:Orphanet Journal of Rare Diseases 2020 15:254
Content type:Research
 
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