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Results overview: Found 2 records in 0.02 seconds.
Articles, 1 records found
Research literature, 1 records found
Articles 1 records found  
1.
5 p, 4.7 MB GNE-related thrombocytopenia : evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme / Bottega, Roberta (Istitute for Maternal and Child Health) ; Marzollo, Antonio (Istituto di Ricerca Pediatrica) ; Marinoni, Maddalena (F. Del Ponte Hospital) ; Athanasakis, Emmanouil (Istitute for Maternal and Child Health) ; Persico, Ilaria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bianco, Anna Monica (Istitute for Maternal and Child Health) ; Faleschini, Michela (Istitute for Maternal and Child Health) ; Valencic, Erica (Istitute for Maternal and Child Health) ; Simoncini, Daniela (F. Del Ponte Hospital) ; Rossini, Linda (University Hospital of Padova (Pàdua, Itàlia)) ; Corsolini, Fabio (Istituto Giannina Gaslini) ; La Bianca, Martina (Istitute for Maternal and Child Health) ; Robustelli, Giuseppe (F. Del Ponte Hospital) ; Gabelli, Maria (University Hospital of Padova (Pàdua, Itàlia)) ; Agosti, Massimo (F. Del Ponte Hospital) ; Biffi, Alessandra (University Hospital of Padova (Pàdua, Itàlia)) ; Grotto, Paolo (Hospital of Treviso) ; Bozzi, Valeria (IRCCS Policlinico San Matteo Foundation) ; Noris, Patrizia (University of Pavia) ; Burlina, Alberto B. (University Hospital of Padova (Pàdua, Itàlia)) ; Pio d'Adamo, Adamo (University of Trieste) ; Tommasini, Alberto (University of Trieste) ; Faletra, Flavio (Istitute for Maternal and Child Health) ; Pastore, Annalisa (European Synchrotron Radiation Facility) ; Savoia, Anna (University of Trieste)
2022 - 10.3324/haematol.2021.279689
Haematologica, Vol. 107, Issue 3 (March 2022) , p. 750-754  
Detailed record - Creative Commons

Research literature 1 records found  
1.
8.9 MB Dealing with the main challenges of fanconi anemia molecular diagnosis and therapy / Persico, Ilaria ; Bogliolo, Massimo, dir. ; Pio D'Adamo, Adamo, dir. ; Surrallés i Calonge, Jordi, dir.
L'anèmia de Fanconi (FA) és un trastorn genètic rar de la reparació de l'ADN amb àmplia heterogeneïtat genètica, múltiples mutacions privades i alta taxa de mosaïcisme, que encara prejutgen el diagnòstic molecular en el cas de variants de difícil caracterització o de patogenicitat dubtosa. [...]
La anemia de Fanconi (FA) es un trastorno genético raro de la reparación del ADN con amplia heterogeneidad genética, múltiples mutaciones privadas y alta tasa de mosaicismo, que todavía prejuzgan el diagnóstico molecular en el caso de variantes de difícil caracterización o de patogenicidad dudosa. [...]
Fanconi anemia (FA) is a rare genetic DNA repair deficiency with vast genetic heterogeneity, multiple private mutations, and high mosaicism rate, still jeopardizing molecular diagnosis in case of variants with difficult characterization or unclear pathogenicity. [...]
2023  
Detailed record -

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