Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, Silvia Genovese, Ester Sallicandro, Kristel Bejo, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli, M. Cristina Digilio
Topics & Concepts
Multiplex ligation-dependent probe amplificationNeurofibromatosisGeneticsBreakpointBiologyNeurofibromin 1ExonMultiplexNeurofibromatosis type IGeneChromosomeNeurofibromatosis and Schwannoma CasesSoft tissue tumor case studiesSoft tissue tumors and treatment