This invention provides the human gene for Niemann-Pick Type C disease and the nucleic acid sequences corresponding to the human gene for Niemann-Pick Type C disease. More

A simple assay to validate and quantify allele-specific silencing More

Sensitive and quantitative assay for the screening of trinucleotide repeat (TNR) mutations. More

Novel gene scanning methodology More

A possible treatment of laminopathies, cellular aging and aging-related conditions such as HGPS through the use of farnesyltransferase inhibitors (FTIs) and other related compounds More

The advantage of this drug delivery system is the ability to directly target specific skeletal sites of disease, while also being able to administer the lowest, clinically effective dose possible, thereby lowering the potential for harmful side effec More

Novel method to quantify polymorphisms in electropherograms, a new approach to the identification of ambiguous DNA sequence reads and its automation More

A rapid and automated method for discovering potential drugs for the treatment of sickle cell anemia, using a combination of laser photolysis and statistical processing of digital images. More