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Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for t...

Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for t...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1529934496

Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene

About this item

Full title

Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene

Publisher

Boston: Springer US

Journal title

Journal of molecular neuroscience, 2014-06, Vol.53 (2), p.204-210

Language

English

Formats

Publication information

Publisher

Boston: Springer US

More information

Scope and Contents

Contents

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 o...

Alternative Titles

Full title

Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1529934496

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1529934496

Other Identifiers

ISSN

0895-8696

E-ISSN

1559-1166

DOI

10.1007/s12031-014-0286-7

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