Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addit...

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Detalles Bibliográficos
Autores principales: Stella, Alessandro, Lastella, Patrizia, Loconte, Daria Carmela, Bukvic, Nenad, Varvara, Dora, Patruno, Margherita, Bagnulo, Rosanna, Lovaglio, Rosaura, Bartolomeo, Nicola, Serio, Gabriella, Resta, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924558/
https://www.ncbi.nlm.nih.gov/pubmed/29673180
http://dx.doi.org/10.3390/genes9040216

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924558/
https://www.ncbi.nlm.nih.gov/pubmed/29673180
http://dx.doi.org/10.3390/genes9040216

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