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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Fondazione Ferrata Storti
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883527/ https://www.ncbi.nlm.nih.gov/pubmed/34788986 http://dx.doi.org/10.3324/haematol.2021.279689 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Bottega, Roberta |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8883527 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Fondazione Ferrata Storti |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-88835272022-03-18 GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 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 Haematologica Letters to the Editor Fondazione Ferrata Storti 2021-11-18 /pmc/articles/PMC8883527/ /pubmed/34788986 http://dx.doi.org/10.3324/haematol.2021.279689 Text en Copyright© 2022 Ferrata Storti Foundation https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
| spellingShingle | Letters to the Editor 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 GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme |
| title | GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme |
| title_full | GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme |
| title_fullStr | GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme |
| title_full_unstemmed | GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme |
| title_short | GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme |
| title_sort | gne-related thrombocytopenia: evidence for a mutational hotspot in the adp/substrate domain of the gne bifunctional enzyme |
| topic | Letters to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883527/ https://www.ncbi.nlm.nih.gov/pubmed/34788986 http://dx.doi.org/10.3324/haematol.2021.279689 |
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