Informace o publikaci

Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences

Autoři	MICHIELS Jan Jacques HANSEN D. Flemming SMEJKAL Petr FIDALGO Tereza BATTLE Francisco Javier BLATNY Jan PENKA Miroslav BATOROVA Angelika PRIGANCOVA Tatiana BUDDE Ulrich VANGENECHTEN Inge GADISSEUR Alain
Rok publikování	2019
Druh	Článek v odborném periodiku
Časopis / Zdroj	Acta Scientific Medical Sciences
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
www	https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf
Klíčová slova	Von Willebrand Disease; Molecular Etiology; 2N Due
Popis	The FVIII binding site on von Willebrand factor (VWF) is located in the D’ (766-864) and D3 (1054-1060) regions of the VWF gene. The cysteine residues in the D’ domain form disulfide bridges within the D’ trypsin-inhibitor-like (TIL’) and E’ regions,and these are of critically importance for the binding between TIL’E’ and FVIII. We analyzed the molecular etiology and laboratory phenotype of von Willebrand disease (VWD) 2N patients reported in the literature and added personal experiences from three European VWF VWD Research Centers.

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