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

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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Bibliographic Details
Main Authors: Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta
Format: Article
Language:English
Published: MDPI AG 2018-04-01
Series:Genes
Subjects:
neurofibromatosis type 1
NF1 gene
variant classification
in silico analysis
splicing
Online Access:http://www.mdpi.com/2073-4425/9/4/216

Internet

http://www.mdpi.com/2073-4425/9/4/216

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