Publications:

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: L1503Q

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One

Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA

Publication Date: 2017

Variant appearance in text: VWF: L1503Q

PubMed Link: 29186156

Variant Present in the following documents:

• Main text
• pone.0188405.pdf

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Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Plos One

Dong, Jing J; Zhao, Xiaojuan X; Shi, Sensen S; Ma, Zhenni Z; Liu, Meng M; Wu, Qingyu Q; Ruan, Changgeng C; Dong, Ningzheng N

Publication Date: 2012

Variant appearance in text: VWF: L1503Q

PubMed Link: 22479377

Variant Present in the following documents:

• pone.0033263.pdf

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Protein interactions in human genetic diseases.

Genome Biology

Schuster-Böckler, Benjamin B; Bateman, Alex A

Publication Date: 2008-01-16

Variant appearance in text: VWF: L1503Q

PubMed Link: 18199329

Variant Present in the following documents:

• gb-2008-9-1-r9-S2.xls, sheet 1

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