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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349720/
https://www.ncbi.nlm.nih.gov/pubmed/32575496
http://dx.doi.org/10.3390/genes11060671

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349720/
https://www.ncbi.nlm.nih.gov/pubmed/32575496
http://dx.doi.org/10.3390/genes11060671

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