We found a different spectrum of NF2 somatic mutations in the schwannomatosis-associated schwannomas compared to the germinal mutations found in NF2 patients, as already demonstrated in sporadic schwannomas. The preponderance of indels as somatic mutations and of single mucleotide substitutions as germline ones, suggest the existence of distinct mechanisms of mutagenesis during mitosis and meiosis.

Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients / Paganini, I; Capone, GL; Putignano, A; Sestini, R; Gensini, F; Porfirio, B; Marozza, A; Papi, L. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 27:(2019), pp. 450-450.

Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients

Paganini, I;Capone, GL;Putignano, A;Sestini, R;Gensini, F;Porfirio, B;Marozza, A;Papi, L
2019

Abstract

We found a different spectrum of NF2 somatic mutations in the schwannomatosis-associated schwannomas compared to the germinal mutations found in NF2 patients, as already demonstrated in sporadic schwannomas. The preponderance of indels as somatic mutations and of single mucleotide substitutions as germline ones, suggest the existence of distinct mechanisms of mutagenesis during mitosis and meiosis.
2019
Paganini, I; Capone, GL; Putignano, A; Sestini, R; Gensini, F; Porfirio, B; Marozza, A; Papi, L
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1177635
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