Literature DB >> 29527674

New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.

Silvia Ferrari1, Anna M Lombardi1, Irene Cortella1, Maria A Businaro1, Antonella Bertomoro1, Irene Di Pasquale1, Fabrizio Fabris1.   

Abstract

Entities:  

Keywords:  zzm321990GP1BBzzm321990; glycoprotein; new variation; platelets; thrombocytopenia

Mesh：

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Year:  2018        PMID： 29527674     DOI： 10.1111/bjh.15176

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  1 in total

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

Authors:  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
Journal:  Br J Haematol       Date:  2020-11-20       Impact factor: 8.615
  1 in total

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