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  4. GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
 
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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Journal
Haematologica-The Hematology Journal
ISSN
0390-6078
Author(s)
Bottega Roberta 
Marzollo Antonio
Marinoni Maddalena
Athanasakis Emmanouil
Persico Ilaria
Bianco Anna Monica Rosaria 
Faleschini Michela 
Valencic Erica 
Simoncini Daniela
Rossini Linda
Corsolini Fabio
La Bianca Martina 
Robustelli Giuseppe
Gabelli Maria
Agosti Massimo
Biffi Alessandra
Grotto Paolo
Bozzi Valeria
Noris Patrizia
Burlina Alberto B
D'Adamo Adamo Pio 
Tommasini Alberto 
Faletra Flavio 
Pastore Annalisa
Savoia Anna 
DOI
10.3324/haematol.2021.279689
Project(s)
Applicazione della piattaforma Ion Torrent per la diagnosi molecolare delle piastrinopenie ereditarie 
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