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Title of Journal: J Mol Neurosci

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Abbravation: Journal of Molecular Neuroscience

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Springer US

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DOI

10.1007/s00025-008-0319-z

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ISSN

1559-1166

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Fast and Robust NextGeneration Sequencing Techniq

Authors: Bernadett Balla Kristóf Árvai Péter Horváth Bálint Tobiás István Takács Zsolt Nagy Magdolna Dank György Fekete János P Kósa Péter Lakatos
Publish Date: 2014/03/28
Volume: 53, Issue: 2, Pages: 204-210
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Abstract

Neurofibromatosis type 1 NF1 gene exhibits one of the highest spontaneous mutation rates in the human genome Identification of the NF1 mutation is challenging because the NF1 gene is very large and complex lacking mutational “hot spots” There is no clustering of mutations there are several pseudogenes and a wide spectrum of different types of mutation has been recognized To date NF1 mutations or deleted regions have been detected with a number of techniques With the appearance of nextgeneration sequencing NGS machines molecular biology is in a new revolutionary phase Our aim was to work out a method to use the highthroughput NGS machine Ion Torrent PGM in diagnostic settings for neurofibromatosis type 1 In our examination we could reveal 21 distinct variations in NF1 gene in seven patients This is an absolutely new method for exploring the genetic background of neurofibromatosis type 1 exhibiting the extremely high throughput of NGS in a diagnostic setting

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