Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease

Haematologica

Volumn 98, Issue 8, 2013, Pages 1315-1323

  Yadegari, Hamideh ^a   Driesen, Julia ^a   Pavlova, Anna ^a   Biswas, Arijit ^a   Ivaskevicius, Vytautas ^a   Klamroth, Robert ^b   Oldenburg, Johannes ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b VIVANTES KLINIKUM IM FRIEDRICHSHAIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RECOMBINANT VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL ELONGATION; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; FEMALE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; MALE; MISSENSE MUTATION; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; SEQUENCE HOMOLOGY; SIMULATION; VON WILLEBRAND DISEASE; WEIBEL PALADE BODY;

ADOLESCENT; ADULT; AGED; CYSTEINE; FEMALE; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 84880990975     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.084111     Document Type: Article

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