MICHIELS, Jan Jacques, D. Flemming HANSEN, Petr SMEJKAL, Tereza FIDALGO, Francisco Javier BATTLE, Jan BLATNY, Miroslav PENKA, Angelika BATOROVA, Tatiana PRIGANCOVA, Ulrich BUDDE, Inge VANGENECHTEN a Alain GADISSEUR. 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. Online. Acta Scientific Medical Sciences. Acta Scientific, 2019, roč. 3, č. 12, s. 140-158. ISSN 2582-0931. [citováno 2024-04-23] |
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@article{1591398, author = {Michiels, Jan Jacques and Hansen, D. Flemming and Smejkal, Petr and Fidalgo, Tereza and Battle, Francisco Javier and Blatny, Jan and Penka, Miroslav and Batorova, Angelika and Prigancova, Tatiana and Budde, Ulrich and Vangenechten, Inge and Gadisseur, Alain}, article_number = {12}, keywords = {Von Willebrand Disease; Molecular Etiology; 2N Due}, language = {eng}, issn = {2582-0931}, journal = {Acta Scientific Medical Sciences}, title = {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}, url = {https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf}, volume = {3}, year = {2019} }
TY - JOUR ID - 1591398 AU - 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 PY - 2019 TI - 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 JF - Acta Scientific Medical Sciences VL - 3 IS - 12 SP - 140-158 EP - 140-158 PB - Acta Scientific SN - 25820931 KW - Von Willebrand Disease KW - Molecular Etiology KW - 2N Due UR - https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf L2 - https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf N2 - 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. ER -
MICHIELS, Jan Jacques, D. Flemming HANSEN, Petr SMEJKAL, Tereza FIDALGO, Francisco Javier BATTLE, Jan BLATNY, Miroslav PENKA, Angelika BATOROVA, Tatiana PRIGANCOVA, Ulrich BUDDE, Inge VANGENECHTEN a Alain GADISSEUR. 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. Online. \textit{Acta Scientific Medical Sciences}. Acta Scientific, 2019, roč.~3, č.~12, s.~140-158. ISSN~2582-0931. [citováno 2024-04-23]
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