Novel missense mutation C106R in the PROC gene associated with type I protein C deficiency in a young Polish man with high-risk pulmonary embolism.
Ewa
E
Wypasek
Daniel P
DP
Potaczek
Martine
M
Alhenc-Gelas
Anetta
A
Undas
D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011044:Poland; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D011655:Pulmonary Embolism / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012307:Risk Factors; D016896:Treatment Outcome; D020246:Venous Thrombosis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy
D000925:Anticoagulants; D011486:Protein C