1. A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
María Carmen Valero, Yolanda Martín, Elisabete Hernández-Imaz, Alba Marina Hernández, Germán Meleán, Ana María Valero, Francisco Javier Rodríguez-Álvarez, Dolores Tellería, Concepción Hernández-Chico 
The Journal of Molecular Diagnostics 
Volume 13, Issue 2, Pages (March 2011)
DOI: /j.jmoldx
Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
Schematic representation of the NF1 region and adjacent genes. The transcriptional orientation of the various genes is indicated by horizontal arrows or arrowheads. Low copy repeats (LCRs) are highlighted by gray boxes. Positions of the MLPA probes are indicated below the map by vertical arrows. The MLPA results for all of the patients (identified by NF case number) with a microdeletion are given and the patients from the validation group are shown above the dotted line. Normalized relative peak area (RPA) ratios indicating a deletion are denoted by an open triangle (RPA ≤ 0.7), and retention of two copies is indicated by a solid circle (0.7 < RPA > 1.3); solid squares indicate RPA value close to 1.3, but duplication was not confirmed by a different assay.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2
A: DHPLC chromatograms detecting M1, M2, and M3 mutated alleles with the NF1 point mutations in cDNA fragment F12. Arrows indicate the wild type (wt) and the variant peaks in the elution profiles. B: cDNA sequence electropherograms for control individuals (lower panels) and those carrying mutations (arrows in upper panels).
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions