Methods and compositions for the detection of mucolipidosis IV mutations
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United States of America Patent
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Issued Date -
Jul 14, 2005
app pub date -
Jan 9, 2004
filing date -
Jan 9, 2004
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Abandoned
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Abstract
The present invention provides a simple high-throughput assay for detecting Mucolipidosis IV mutant sequences (IVS3-2A>G, and/or the del6.4 kb) and optionally wildtype sequences in the same assay using probes with labeled with detectable labels, amplification with a DNA polymerase and acquisition of fluorescence in real time. The assay is automated, high throughput and cost effective, since two mutations and a wildtype sequence can be detected in a single reaction, as opposed to separate reactions.
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