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Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.
Donadon, Irving; McVey, John H; Garagiola, Isabella; Branchini, Alessio; Mortarino, Mimosa; Peyvandi, Flora; Bernardi, Francesco; Pinotti, Mirko.
Afiliación
  • Donadon I; Department of Life Sciences and Biotechnology, University of Ferrara, Italy.
  • McVey JH; Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.
  • Garagiola I; School of Bioscience & Medicine, University of Surrey, Guildford, UK.
  • Branchini A; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy.
  • Mortarino M; Department of Life Sciences and Biotechnology, University of Ferrara, Italy.
  • Peyvandi F; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy.
  • Bernardi F; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy.
  • Pinotti M; Department of Pathophysiology and Transplantation, University of Milan, Italy.
Haematologica ; 103(2): 344-350, 2018 02.
Article en En | MEDLINE | ID: mdl-29170251
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factor VIII / Mutación Missense / Hemofilia A Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Haematologica Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factor VIII / Mutación Missense / Hemofilia A Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Haematologica Año: 2018 Tipo del documento: Article País de afiliación: Italia