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

Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini,

Haematologica · 2021 · 20 citations · 10 references

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Concepts

MedicineHematologyMolecular GeneticsEnzymologyEnzyme DeficienciesPlatelet ActivationPlatelet DisordersPlatelet PhysiologyAutoimmune ThrombocytopeniaInherited Platelet Activation DisordersMutational HotspotsThrombocyte DisordersThrombocytopenia With Genetic Syndromes

Abstract

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.; Pio d'Adamo, Adamo; Tommasini, Alberto; Faletra, Flavio; Pastore, Annalisa; Savoia, Anna