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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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Detalles Bibliográficos
Autores principales: Hernández-Imaz, Elisabete, Martín, Yolanda, de Conti, Laura, Melean, German, Valero, Ana, Baralle, Marco, Hernández-Chico, Concepción
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624989/
https://www.ncbi.nlm.nih.gov/pubmed/26509978
http://dx.doi.org/10.1371/journal.pone.0141735