Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function

Inserm, U1036, Grenoble F-38000, France, CEA, DSV, iRTSV, Laboratoire Biologie du Cancer et de L’Infection, Grenoble F-38000, France, University Grenoble-Alpes, Grenoble F-38000, France, Hopital Edouard Herriot Service de Genetique Moleculaire et Clinique, Lyon, France and Hospices Civils de Lyon, Hopital Louis Pradel, Genetic Department and National Reference Center for Rendu-Osler Disease, France