Publications:

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: 2546+3G>C

PubMed Link: 35452508

Variant Present in the following documents:

• advancesADV2022007216-suppl1.pdf

View BVdb publication page

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.

Haematologica

Platè, Manuela M; Duga, Stefano S; Baronciani, Luciano L; La Marca, Silvia S; Rubini, Valentina V; Mannucci, Pier Mannuccio PM; Federici, Augusto B AB; Asselta, Rosanna R

Publication Date: 2010-01

Variant appearance in text: VWF: 2546+3G>C

PubMed Link: 19773258

Variant Present in the following documents:

• Main text

View BVdb publication page