1. Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations 
Friederike Gedge, Jamie McDonald, Amit Phansalkar, Lan-Szu Chou, Fernanda Calderon, Rong Mao, Elaine Lyon, Pinar Bayrak- Toydemir 
The Journal of Molecular Diagnostics 
Volume 9, Issue 2, Pages (April 2007)
DOI: /jmoldx
Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2. Figure 1
Examples of TGCE results. The x axis shows the migration time in data points (one data point = 1 second), and the y axis shows the fluorescent intensity. a: Typical wild-type peak, in this case, ACVRL1 exon 10. b: Typical peak pattern for a point mutation with two clearly distinguishable peaks, in this case, c.1029C>T in ENG. c: Another typical peak pattern for a point mutation. The peak has a shoulder on the right side. This amplicon contained c.207G>A in ENG. d: Hard-to-distinguish peak with shoulder. This amplicon had c G>A in ACVRL1. This variant was initially missed by TGCE analysis. After full gene analysis, TGCE data were reanalyzed, and this small shoulder on the right side was evident. This peak was enlarged to show ∼85 data points, whereas all of the others show ∼160 data points. e: Characteristic peak pattern for insertions and deletions. This amplicon contained c _27insCCTCCC in ENG.
The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx )
Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions