Publications:

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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica

Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2017-12

Variant appearance in text: VWF: 3815G>C; Cys1272Ser

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.

Journal Of Molecular Biology

Tischer, Alexander A; Machha, Venkata R VR; Frontroth, Juan P JP; Brehm, Maria A MA; Obser, Tobias T; Schneppenheim, Reinhard R; Mayne, Leland L; Walter Englander, S S; Auton, Matthew M

Publication Date: 2017-07-07

Variant appearance in text: VWF: C1272S

PubMed Link: 28533135

Variant Present in the following documents:

• Main text

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A molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.

Proteins

Tischer, Alexander A; Madde, Pranathi P; Blancas-Mejia, Luis M LM; Auton, Matthew M

Publication Date: 2014-05

Variant appearance in text: VWF: C1272S

PubMed Link: 24265179

Variant Present in the following documents:

• Main text

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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: C1272S

PubMed Link: 22479377

Variant Present in the following documents:

• pone.0033263.pdf

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Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood

Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL

Publication Date: 2012-05-10

Variant appearance in text: VWF: C1272S

PubMed Link: 22431572

Variant Present in the following documents:

• Main text

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Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine

Torres, Richard R; Fedoriw, Yuri Y

Publication Date: 2009-06

Variant appearance in text: VWF: C1272S

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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