BIOM-10. PREVALENCE OF NF1 MISSENSE MUTATIONS AND CANDIDATE MODIFIER GENES IN SPINAL NEUROFIBROMATOSIS PATIENTS

INTRODUCTION: Spinal Neurofibromatosis (SNF), a distinct clinical entity of NF1, characterized by bilateral neurofibromas involving all spinal roots and a few, if any, cutaneous manifestations, entails greater morbidity than the classical form of disease. Nevertheless, there are no reliable patterns...

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Dades bibliogràfiques
Publicat a:Neuro Oncol
Autors principals: Riva, Paola, Bianchessi, Donata, Mangano, Eleonora, Cesaretti, Claudia, Bettinaglio, Paola, Bordoni, Roberta, Tritto, Viviana, Battaglia, Cristina, Cagnoli, Giulia, Saletti, Veronica, Melone, Marina, Schettino, Carla, Natacci, Federica, Finocchiaro, Gaetano, Eoli, Marica
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Biomarkers
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7650485/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/noaa215.010
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