Condition: von Willebrand Disease, Type 1


rs61748511 in VWF gene and von Willebrand Disease, Type 1 PMID 11698279 2001 Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.

PMID 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.

PMID 11698279 2001 Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.