Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene

Neurofibromatosis 1 (NF1) is one of the most common genetic disorders and is caused by mutations in the NF1 gene. NF1 gene mutational analysis presents a considerable challenge because of its large size, existence of highly homologous pseudogenes located throughout the human genome, absence of mutat...

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Detalles Bibliográficos
Autores principales: Cunha, Karin Soares, Oliveira, Nathalia Silva, Fausto, Anna Karoline, de Souza, Carolina Cruz, Gros, Audrey, Bandres, Thomas, Idrissi, Yamina, Merlio, Jean-Philippe, de Moura Neto, Rodrigo Soares, Silva, Rosane, Geller, Mauro, Cappellen, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192509/
https://www.ncbi.nlm.nih.gov/pubmed/27999334
http://dx.doi.org/10.3390/genes7120133

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