A novel type of mutation at the propeptide cleavage site (AlA+1Thr) causing symptomatic protein C type II deficiency.
Dodojacek
R
R
Department of Paediatrics, and Ludwig Boltzmann Research Institute for Paediatric Haemostasis and Thrombosis, University of Graz, Austria.
Höfler
G
G
Leschnik
B
B
Muntean
W
W
D000293:Adolescent; D000328:Adult; D001665:Binding Sites / Q000235:genetics; D015153:Blotting, Western; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011486:Protein C / Q000235:genetics / Q000378:metabolism; D020151:Protein C Deficiency / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
D011486:Protein C