Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: A possible general mechanism for dominant mutations of oligomeric proteins

Blood

Volumn 98, Issue 10, 2001, Pages 2973-2979

  Bodó, Imre ^a,b   Katsumi, Akira ^a,b   Tuley, Elodee A ^a,b   Eikenboom, Jeroen C J ^a,b   Dong, Zhengyu ^a,b   Evan Sadler, J ^a,b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; OLIGOMER; PROTEIN; VON WILLEBRAND FACTOR;

ANIMAL CELL; ARTICLE; CELL STRAIN BHK; DIMERIZATION; ENDOPLASMIC RETICULUM; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MUTATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN SECRETION; VON WILLEBRAND DISEASE;

EID: 0035892101     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V98.10.2973     Document Type: Article

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