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  4. GP1BB c.179C > T is the most frequent cause of monoallelic Bernard¿Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families
 
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GP1BB c.179C > T is the most frequent cause of monoallelic Bernard¿Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

Journal
ANNALS OF HEMATOLOGY
Author(s)
Serena Barozzi
Alessandro Pecci
Maddalena Marinoni
FONTANA GIORGIA
ZANCHETTA MELANIA EVA
Patrizia Noris
Savoia Anna 
Faleschini Michela 
DOI
10.1007/s00277-022-05079-0
Project(s)
Molecular screening of Inherited Thrombocytopenias and developmental of gene specific functional assays for the characterization of pathogenetic variants: models for the study of THPO, TUBB1, ACTN1 and GFI1B mutations 
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C.A.R.S.O. - I.R.C.C.S. materno infantile Burlo Garofolo

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