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

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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Bibliographic Details
Main Authors: Karin Soares Cunha, Nathalia Silva Oliveira, Anna Karoline Fausto, Carolina Cruz de Souza, Audrey Gros, Thomas Bandres, Yamina Idrissi, Jean-Philippe Merlio, Rodrigo Soares de Moura Neto, Rosane Silva, Mauro Geller, David Cappellen
Format: Article
Language:English
Published: MDPI AG 2016-12-01
Series:Genes
Subjects:
Neurofibromatosis 1
NF1 gene
next generation sequencing
Online Access:http://www.mdpi.com/2073-4425/7/12/133

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