Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis.

Abstract

BACKGROUND About 5% of patients with neurofibromatosis type 1 (NF1) bear constitutional microdeletions that encompass NF1 (neurofibromin 1) and neighboring genes. These patients are characterized by the development of a high number of dermal neurofibromas (dNFs), mental retardation, and an increased risk of developing a malignant peripheral nerve sheath… (More)
DOI: 10.1373/clinchem.2012.194217

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@article{Terribas2013ProbebasedQP, title={Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis.}, author={Ernest Terribas and Carles Garcia-Linares and Conxi L{\'a}zaro and Eduard Serra}, journal={Clinical chemistry}, year={2013}, volume={59 6}, pages={928-37} }