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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...
Autores principales: | Hernández-Imaz, Elisabete, Martín, Yolanda, de Conti, Laura, Melean, German, Valero, Ana, Baralle, Marco, Hernández-Chico, Concepción |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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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 |
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