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The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the
CHM
locus in a male patient with classical disease. At the DNA level, this imbalance consists of 2 non‐contiguous duplications (exons 1‐2 and 9‐12). Further characterization suggests...
Viruses are of high medical and biodefense concern and their detection at concentrations well below the threshold necessary to cause health hazards continues to be a challenge with respect to sensitivity, specificity, and selectivity. Ideally, assays for accurate and real time detection of viral agents would not necessitate any pre-processing of the analyte, which would make them applicable for example...
The rapid autonomous detection of pathogenic microorganisms and bioagents by field deployable platforms is critical to human health and safety. To achieve a high level of sensitivity for fluidic detection applications, we have developed a 330 MHz Love wave acoustic biosensor on 36deg YX lithium tantalate (LTO). Each die has four delay-line detection channels, permitting simultaneous measurement of...
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