Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor.

Spena, Silvia; Cairo, Andrea; Gianniello, Francesca; Pappalardo, Emanuela; Mortarino, Mimosa; Garagiola, Isabella; Martinelli, Ida; Peyvandi, Flora

Spena, Silvia; Cairo, Andrea; Gianniello, Francesca; Pappalardo, Emanuela; Mortarino, Mimosa; Garagiola, Isabella; Martinelli, Ida; Peyvandi, Flora.

Afiliação

Spena S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Cairo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Gianniello F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Pappalardo E; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.
Mortarino M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Garagiola I; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Martinelli I; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Peyvandi F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.

Int J Mol Sci ; 24(18)2023 Sep 15.

Article em En | MEDLINE | ID: mdl-37762470

Palavras-chave

factor VIII; high-throughput DNA sequencing; microRNAs; thrombosis; von Willebrand factor

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article

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