1. A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration 
Andrea Rivera, Karen White, Heidi Stöhr, Klaus Steiner, Nadine Hemmrich, Timo Grimm, Bernhard Jurklies, Birgit Lorenz, Hendrik P.N. Scholl, Eckhart Apfelstedt-Sylla, Bernhard H.F. Weber 
The American Journal of Human Genetics 
Volume 67, Issue 4, Pages (October 2000)
DOI: /303090
Copyright © 2000 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Evaluation of consequences of intervening sequence alterations: results of RT-PCR analyses (a) and schematic representations (b–f), indicating abnormal splicing at mutant splice site IVS20+5G→A (b and d) and normal splicing at mutant splice sites IVS23+10T→G and IVS38−10T→C (c and e). Clone IVS40+5G→A reveals both normal and abnormal splicing products, suggesting partial activity at the mutant site (a and f). The relative positions of the forward (⇀)and reverse (↼) RT-PCR primers, mutant sites (*), and the cryptic splice site in the pSPL3b vector sequence (○) are indicated. For sizing of RT-PCR products, the 100-bp ladder is given, and spans range 100–500 bp.
The American Journal of Human Genetics  , DOI: ( /303090)
Copyright © 2000 The American Society of Human Genetics Terms and Conditions