Publications:

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Pagliari, Maria Teresa MT; Baronciani, Luciano L; Cordiglieri, Chiara C; Colpani, Paola P; Cozzi, Giovanna G; Siboni, Simona M SM; Peyvandi, Flora F

Publication Date: 2022-03

Variant appearance in text: VWF: D141Y

PubMed Link: 35064738

Variant Present in the following documents:

• HAE-28-292.pdf

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Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica

Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés-Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, 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; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2019-03

Variant appearance in text: VWF: Asp141Tyr

PubMed Link: 30361419

Variant Present in the following documents:

• Main text
• 1040587.pdf

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von Willebrand factor propeptide: biology and clinical utility.

Blood

Haberichter, Sandra L SL

Publication Date: 2015-10-08

Variant appearance in text: VWF: D141Y

PubMed Link: 26215113

Variant Present in the following documents:

• Main text

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Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion.

Journal Of Hematology & Oncology

Yin, Jie J; Ma, Zhenni Z; Su, Jian J; Wang, Jiong-Wei JW; Zhao, Xiaojuan X; Ling, Jing J; Bai, Xia X; Ouyang, Wanyan W; Wang, Zhaoyue Z; Yu, Ziqiang Z; Ruan, Changgeng C

Publication Date: 2015-06-20

Variant appearance in text: VWF: D141Y

PubMed Link: 26088471

Variant Present in the following documents:

• 13045_2015_Article_166.pdf

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Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis

Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC

Publication Date: 2013-08

Variant appearance in text: VWF: D141Y

PubMed Link: 23702511

Variant Present in the following documents:

• Main text

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