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Article

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

Haematologica - 1 Mar 2022

Bottega Roberta, Marzollo Antonio, Marinoni Maddalena, Athanasakis Emmanouil, Persico Ilaria, Bianco Anna Monica, 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

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Identifiers

PMID: 34788986
DOI: 10.3324/haematol.2021.279689
PMCID: PMC8883527

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