Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein

Thrombosis and Haemostasis

Volumn 111, Issue 1, 2013, Pages 58-66

  Pahl, Saskia ^a   Pavlova, Anna ^a   Driesen, Julia ^a   Oldenburg, Johannes ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

B domain; Factor VIII; Genotype phenotype relationship; Missense mutation

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

ARTICLE; B DOMAIN; CELL LYSATE; COMPUTER MODEL; DNA SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEMOPHILIA; HUMAN; HUMAN CELL; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; THERMOSTABILITY;

B DOMAIN; FACTOR VIII; GENOTYPE-PHENOTYPE RELATIONSHIP; MISSENSE MUTATION;

ALTERNATIVE SPLICING; BINDING SITES; BLOOD COAGULATION; FACTOR VIII; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HEK293 CELLS; HEMOPHILIA A; HOT TEMPERATURE; HUMANS; MUTATION, MISSENSE; PHENOTYPE; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; TEMPERATURE;

EID: 84891843357     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH13-01-0028     Document Type: Article

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