GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
Bottega, Roberta R; Marzollo, Antonio A; Marinoni, Maddalena M; Athanasakis, Emmanouil E; Persico, Ilaria I; Bianco, Anna Monica AM; Faleschini, Michela M; Valencic, Erica E; Simoncini, Daniela D; Rossini, Linda L; Corsolini, Fabio F; La Bianca, Martina M; Robustelli, Giuseppe G; Gabelli, Maria M; Agosti, Massimo M; Biffi, Alessandra A; Grotto, Paolo P; Bozzi, Valeria V; Noris, Patrizia P; Burlina, Alberto B AB; D'Adamo, Adamo Pio AP; Tommasini, Alberto A; Faletra, Flavio F; Pastore, Annalisa A; Savoia, Anna A
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Blood Advances
Lee, Eun-Ju EJ; Dykas, Daniel J DJ; Leavitt, Andrew D AD; Camire, Rodney M RM; Ebberink, Eduard E; García de Frutos, Pablo P; Gnanasambandan, Kavitha K; Gu, Sean X SX; Huntington, James A JA; Lentz, Steven R SR; Mertens, Koen K; Parish, Christopher R CR; Rezaie, Alireza R AR; Sayeski, Peter P PP; Cromwell, Caroline C; Bar, Noffar N; Halene, Stephanie S; Neparidze, Natalia N; Parker, Terri L TL; Burns, Adrienne J AJ; Dumont, Anne A; Yao, Xiaopan X; Chaar, Cassius Iyad Ochoa CIO; Connors, Jean M JM; Bale, Allen E AE; Lee, Alfred Ian AI