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; Fabio Corsolini; Martina La Bianca; Giuseppe Robustelli; Maria Gabelli; Massimo Agosti; Alessandra Biffi; Paolo Grotto; Valeria Bozzi; Patrizia Noris; Alberto B Burlina; Adamo Pio d'Adamo; Alberto Tommasini; Flavio Faletra; Annalisa Pastore; Anna Savoia

doi:10.3324/haematol.2021.279689

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, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B BurlinaAdamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

Research output: Contribution to journal › Article › peer-review

Abstract

Not available.

Original language	English
Journal	Haematologica
DOIs	https://doi.org/10.3324/haematol.2021.279689
Publication status	E-pub ahead of print - Nov 18 2021

Access to Document

10.3324/haematol.2021.279689

Cite this

Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., Robustelli, G., Gabelli, M., Agosti, M., Biffi, A., Grotto, P., Bozzi, V., Noris, P., ... Savoia, A. (2021). GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme. Haematologica. https://doi.org/10.3324/haematol.2021.279689

Bottega, R, Marzollo, A, Marinoni, M, Athanasakis, E, Persico, I, Bianco, AM , Faleschini, M, Valencic, E, Simoncini, D, Rossini, L, Corsolini, F , La Bianca, M, Robustelli, G, Gabelli, M, Agosti, M, Biffi, A, Grotto, P, Bozzi, V , Noris, P, Burlina, AB, Pio d'Adamo, A, Tommasini, A, Faletra, F, Pastore, A & Savoia, A 2021, 'GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme', Haematologica. https://doi.org/10.3324/haematol.2021.279689

@article{bac20ac6af524be993a3572efda6cb08,

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

abstract = "Not available.",

author = "Roberta Bottega and Antonio Marzollo and Maddalena Marinoni and Emmanouil Athanasakis and Ilaria Persico and Bianco, {Anna Monica} and Michela Faleschini and Erica Valencic and Daniela Simoncini and Linda Rossini and Fabio Corsolini and {La Bianca}, Martina and Giuseppe Robustelli and Maria Gabelli and Massimo Agosti and Alessandra Biffi and Paolo Grotto and Valeria Bozzi and Patrizia Noris and Burlina, {Alberto B} and {Pio d'Adamo}, Adamo and Alberto Tommasini and Flavio Faletra and Annalisa Pastore and Anna Savoia",

year = "2021",

month = nov,

day = "18",

doi = "10.3324/haematol.2021.279689",

language = "English",

journal = "Haematologica",

issn = "1592-8721",

publisher = "NLM (Medline)",

}

TY - JOUR

T1 - GNE-related thrombocytopenia

T2 - evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

AU - Bottega, Roberta

AU - Marzollo, Antonio

AU - Marinoni, Maddalena

AU - Athanasakis, Emmanouil

AU - Persico, Ilaria

AU - Bianco, Anna Monica

AU - Faleschini, Michela

AU - Valencic, Erica

AU - Simoncini, Daniela

AU - Rossini, Linda

AU - Corsolini, Fabio

AU - La Bianca, Martina

AU - Robustelli, Giuseppe

AU - Gabelli, Maria

AU - Agosti, Massimo

AU - Biffi, Alessandra

AU - Grotto, Paolo

AU - Bozzi, Valeria

AU - Noris, Patrizia

AU - Burlina, Alberto B

AU - Pio d'Adamo, Adamo

AU - Tommasini, Alberto

AU - Faletra, Flavio

AU - Pastore, Annalisa

AU - Savoia, Anna

PY - 2021/11/18

Y1 - 2021/11/18

N2 - Not available.

AB - Not available.

U2 - 10.3324/haematol.2021.279689

DO - 10.3324/haematol.2021.279689

M3 - Article

C2 - 34788986

SN - 1592-8721

JO - Haematologica

JF - Haematologica

ER -

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

Abstract

Access to Document

Fingerprint

Cite this