The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study

We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes...

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Veröffentlicht in:	Genetic testing and molecular biomarkers 2014-11, Vol.18 (11), p.722-735
Hauptverfasser:	Maruoka, Ryo, Takenouchi, Toshiki, Torii, Chiharu, Shimizu, Atsushi, Misu, Kumiko, Higasa, Koichiro, Matsuda, Fumihiko, Ota, Arihito, Tanito, Katsumi, Kuramochi, Akira, Arima, Yoshimi, Otsuka, Fujio, Yoshida, Yuichi, Moriyama, Keiji, Niimura, Michihito, Saya, Hideyuki, Kosaki, Kenjiro
Format:	Artikel
Sprache:	eng
Schlagworte:	DNA Mutational Analysis - methods Exons Female Genes, Neurofibromatosis 1 High-Throughput Nucleotide Sequencing Humans Male Molecular Diagnostic Techniques - methods Mutation Neurofibromatosis 1 - genetics Original
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