A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

Fabio Busonero; Maristella Steri; Valeria Orrù; Gabriella Sole; Stefania Olla; Michele Marongiu; Andrea Maschio; Carlo Sidore; Sandra Lai; Antonella Mulas; Magdalena Zoledziewska; Matteo Floris; Mauro Pala; Paola Forabosco; Isadora Asunis; Maristella Pitzalis; Francesca Deidda; Marco Masala; Cristian Antonio Caria; Susanna Barella; Goncalo R Abecasis; David Schlessinger; Serena Sanna; Edoardo Fiorillo; Francesco Cucca

doi:10.1111/bjh.17090

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

Fabio Busonero, Maristella Steri, Valeria Orrù, Gabriella Sole, Stefania Olla, Michele Marongiu, Andrea Maschio, Carlo Sidore, Sandra Lai, Antonella Mulas, Magdalena Zoledziewska, Matteo Floris, Mauro Pala, Paola Forabosco, Isadora Asunis, Maristella Pitzalis, Francesca Deidda, Marco Masala, Cristian Antonio Caria, Susanna BarellaGoncalo R Abecasis, David Schlessinger, Serena Sanna, Edoardo Fiorillo, Francesco Cucca

Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	e124-e128
Number of pages	5
Journal	British Journal of Haematology
Issue number	5
DOIs	https://doi.org/10.1111/bjh.17090
Publication status	E-pub ahead of print - 20-Nov-2020

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A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia
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Busonero, F., Steri, M., Orrù, V., Sole, G., Olla, S., Marongiu, M., Maschio, A., Sidore, C., Lai, S., Mulas, A., Zoledziewska, M., Floris, M., Pala, M., Forabosco, P., Asunis, I., Pitzalis, M., Deidda, F., Masala, M., Caria, C. A., ... Cucca, F. (2020). A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia. British Journal of Haematology, (5), e124-e128. https://doi.org/10.1111/bjh.17090

Busonero, Fabio ; Steri, Maristella ; Orrù, Valeria ; Sole, Gabriella ; Olla, Stefania ; Marongiu, Michele ; Maschio, Andrea ; Sidore, Carlo ; Lai, Sandra ; Mulas, Antonella ; Zoledziewska, Magdalena ; Floris, Matteo ; Pala, Mauro ; Forabosco, Paola ; Asunis, Isadora ; Pitzalis, Maristella ; Deidda, Francesca ; Masala, Marco ; Caria, Cristian Antonio ; Barella, Susanna ; Abecasis, Goncalo R ; Schlessinger, David ; Sanna, Serena ; Fiorillo, Edoardo ; Cucca, Francesco. / A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia. In: British Journal of Haematology. 2020 ; No. 5. pp. e124-e128.

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title = "A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia",

author = "Fabio Busonero and Maristella Steri and Valeria Orr{\`u} and Gabriella Sole and Stefania Olla and Michele Marongiu and Andrea Maschio and Carlo Sidore and Sandra Lai and Antonella Mulas and Magdalena Zoledziewska and Matteo Floris and Mauro Pala and Paola Forabosco and Isadora Asunis and Maristella Pitzalis and Francesca Deidda and Marco Masala and Caria, {Cristian Antonio} and Susanna Barella and Abecasis, {Goncalo R} and David Schlessinger and Serena Sanna and Edoardo Fiorillo and Francesco Cucca",

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Busonero, F, Steri, M, Orrù, V, Sole, G, Olla, S, Marongiu, M, Maschio, A, Sidore, C, Lai, S, Mulas, A, Zoledziewska, M, Floris, M, Pala, M, Forabosco, P, Asunis, I, Pitzalis, M, Deidda, F, Masala, M, Caria, CA, Barella, S, Abecasis, GR, Schlessinger, D, Sanna, S, Fiorillo, E & Cucca, F 2020, 'A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia', British Journal of Haematology, no. 5, pp. e124-e128. https://doi.org/10.1111/bjh.17090

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia. / Busonero, Fabio; Steri, Maristella; Orrù, Valeria; Sole, Gabriella; Olla, Stefania; Marongiu, Michele; Maschio, Andrea; Sidore, Carlo; Lai, Sandra; Mulas, Antonella; Zoledziewska, Magdalena; Floris, Matteo; Pala, Mauro; Forabosco, Paola; Asunis, Isadora; Pitzalis, Maristella; Deidda, Francesca; Masala, Marco; Caria, Cristian Antonio; Barella, Susanna; Abecasis, Goncalo R; Schlessinger, David; Sanna, Serena; Fiorillo, Edoardo; Cucca, Francesco.

In: British Journal of Haematology, No. 5, 20.11.2020, p. e124-e128.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

AU - Busonero, Fabio

AU - Steri, Maristella

AU - Orrù, Valeria

AU - Sole, Gabriella

AU - Olla, Stefania

AU - Marongiu, Michele

AU - Maschio, Andrea

AU - Sidore, Carlo

AU - Lai, Sandra

AU - Mulas, Antonella

AU - Zoledziewska, Magdalena

AU - Floris, Matteo

AU - Pala, Mauro

AU - Forabosco, Paola

AU - Asunis, Isadora

AU - Pitzalis, Maristella

AU - Deidda, Francesca

AU - Masala, Marco

AU - Caria, Cristian Antonio

AU - Barella, Susanna

AU - Abecasis, Goncalo R

AU - Schlessinger, David

AU - Sanna, Serena

AU - Fiorillo, Edoardo

AU - Cucca, Francesco

PY - 2020/11/20

Y1 - 2020/11/20

U2 - 10.1111/bjh.17090

DO - 10.1111/bjh.17090

M3 - Article

C2 - 33216977

SP - e124-e128

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 5

ER -