Protein C deficiency in a family with thromboembolism and identified gene mutations

Internal Medicine

Volumn 46, Issue 13, 2007, Pages 997-1003

  Hoshi, Sakuo ^a,b   Hijikata, Minako ^c   Togashi, Yuuki ^a   Aoyagi, Tetsuji ^a   Kono, Chiyoko ^a   Yamada, Yoshihito ^a   Amano, Hiroko ^a   Keicho, Naoto ^c   Yamaguchi, Tetsuo ^a  

^a JR Tokyo General Hospital   (Japan)

^b Doai Memorial Hospital   (Japan)

^c NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

Author keywords

Hotspot; Missense mutation; Promoter polymorphism; Protein C deficiency; Pulmonary thromboembolism

Indexed keywords

ARGININE; D DIMER; HEPARIN; PROTEIN C; SERINE; TRYPTOPHAN; UROKINASE; WARFARIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; DYSPNEA; FAMILIAL DISEASE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; LEG PAIN; LUNG EMBOLISM; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PROMOTER REGION; PROTEIN BLOOD LEVEL; PROTEIN C DEFICIENCY; SEQUENCE ANALYSIS;

ADULT; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEPARIN; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN C DEFICIENCY; PULMONARY EMBOLISM; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, X-RAY COMPUTED;

EID: 34547903214     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.46.6277     Document Type: Article

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