Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Neurofibromatosis type 1 (NF1) is one of the most common human hereditary disorders, predisposing individuals to the development of benign and malignant tumors in the nervous system, as well as other clinical manifestations. NF1 is caused by heterozygous mutations in the NF1 gene and around 25% of t...

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Bibliographic Details
Main Authors: Hernández-Imaz, Elisabete, Martín, Yolanda, de Conti, Laura, Melean, German, Valero, Ana, Baralle, Marco, Hernández-Chico, Concepción
Format: Online
Language:English
Published: Public Library of Science 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624989/