Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Mult...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Bianchessi, Donatella, Ibba, Maria Cristina, Saletti, Veronica, Blasa, Stefania, Langella, Tiziana, Paterra, Rosina, Cagnoli, Giulia Anna, Melloni, Giulia, Scuvera, Giulietta, Natacci, Federica, Cesaretti, Claudia, Finocchiaro, Gaetano, Eoli, Marica
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7349720/
https://ncbi.nlm.nih.gov/pubmed/32575496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11060671
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