Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation

Thrombosis Research

Volumn 125, Issue 5, 2010, Pages 438-443

  Suzuki, Keijiro ^a   Murai, Kazunori ^a   Suwabe, Akira ^a   Ishida, Yoji ^a  

^a IWATE MEDICAL UNIVERSITY   (Japan)

Author keywords

Blood coagulation; Expression study; Factor XII deficiency; Mutation; Proteasome

Indexed keywords

ASPARAGINE; BLOOD CLOTTING FACTOR 12; LYSINE; MESSENGER RNA; MUTANT PROTEIN; PROTEASOME;

AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANTIGEN EXPRESSION; ARTICLE; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 12 DEFICIENCY; CASE REPORT; CHO CELL; CONTROLLED STUDY; ENZYME ACTIVE SITE; FEMALE; GENE SEQUENCE; GOLGI COMPLEX; HUMAN; JAPANESE; NONHUMAN; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SECRETION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WILD TYPE;

AGED; FACTOR XII DEFICIENCY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEASOME ENDOPEPTIDASE COMPLEX;

EID: 77951667813     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2009.12.004     Document Type: Article

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