Epcr 23 bp insertion in a patient with severe progressive arterial disease: a dominant loss of function mutant in conditions of increased APC request?
Zecchina
Gabriella
G
Bosio
Sandra
S
Brusa
Elena
E
Rege-Cambrin
Giovanna
G
Camaschella
Clara
C
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
D001779:Blood Coagulation Factors; D004251:DNA Transposable Elements; D011956:Receptors, Cell Surface; C091963:activated protein C receptor