title: Epcr 23 bp insertion in a patient with severe progressive arterial disease: a dominant loss of function mutant in conditions of increased APC request?
authors.forename: Gabriella
authors.initials: G
authors.lastname: Zecchina
authors.forename: Sandra
authors.initials: S
authors.lastname: Bosio
authors.forename: Elena
authors.initials: E
authors.lastname: Brusa
authors.forename: Giovanna
authors.initials: G
authors.lastname: Rege-Cambrin
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000328:Adult; D001157:Arterial Occlusive Diseases / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000235:genetics*; D004251:DNA Transposable Elements / Q000235:genetics; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics; D016909:Tibial Arteries
chemical_list: D001779:Blood Coagulation Factors; D004251:DNA Transposable Elements; D011956:Receptors, Cell Surface; C091963:activated protein C receptor