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

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Veröffentlicht in:British journal of haematology Jg. 191; H. 5; S. e124 - e128
Hauptverfasser: 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
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Blackwell Publishing Ltd 01.12.2020
Schlagworte:
bernard‐Soulier syndrome
Female
Founder Effect
functional studies
genetic analysis
GP1BB
Hematology
Humans
Italy
Male
Mutation
platelet count
Platelet Glycoprotein GPIb-IX Complex - genetics
platelet glycoproteins
Thrombocytopenia
Thrombocytopenia - genetics
Italy
platelet count
platelet glycoproteins
functional studies
genetic analysis
bernard-Soulier syndrome
GP1BB
ISSN:0007-1048, 1365-2141, 1365-2141
Online-Zugang:Volltext
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Fabio Busonero, Maristella Pitzalis and Francesca Deidda collected samples and extracted genomic DNA from blood; Fabio Busonero, Andrea Maschio, Antonella Mulas and Magdalena Zoledziewska performed genotyping; Fabio Busonero and Andrea Maschio, performed sequencing; Valeria Orrù and Edoardo Fiorillo designed flow cytometric panels; Valeria Orrù, Edoardo Fiorillo and Sandra Lai performed cytometric analysis; Maristella Steri, Gabriella Sole, Carlo Sidore, Matteo Floris, Mauro Pala, Paola Forabosco, Marco Masala and Serena Sanna performed statistical analyses; Maristella Steri, Michele Marongiu and Serena Sanna performed bioinformatic analyses; Fabio Busonero and Serena Sanna performed region-specific analysis and selected candidate genes; Stefania Olla performed in silico analyses; Isadora Asunis and Cristian Antonio Caria performed functional evaluation; Francesco Cucca, Goncalo R. Abecasis and David Schlessinger provided funds and supervised the work; Susanna Barella provided clinical support; Fabio Busonero, Maristella Steri and Francesco Cucca wrote the paper; Valeria Orrù, Gabriella Sole, Stefania Olla, Andrea Maschio, Carlo Sidore, Matteo Floris, David Schlessinger and Serena Sanna revised the paper. All authors read the paper and contributed to its final form.
These authors contributed equally to this work.
Author contributions
ISSN:0007-1048
1365-2141
1365-2141
DOI:10.1111/bjh.17090