Nancy E. Stone

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The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate assembly of the genome sequence. Here we report the(More)
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two(More)
The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic(More)
The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is located on human chromosome 21q22.3 in a region defined by recombination breakpoints and linkage disequilibrium. As part of an effort to clone the EPM1 gene on the basis of its chromosomal location, we have constructed a 753-kb bacterial clone contig that(More)
Radioactive progesterone of very high specific activity was required for certain in vitro experiments and at appropriate dilutions for in vivo studies on the metabolism of the hormone. It seemed likely that such a product might be prepared with comparative ease and economy by utilizing tritium as the isotopic labelling agent. Catalytic hydrogenation of an(More)
iv Dedication In loving memory of my son, Christopher R. Stone, whose passion for life served as my guiding light in the darkest of times. v Acknowledgements I would like to thank my committee: James A. Fain, for his excellent statistical skills and willingness to share this knowledge; Kathleen Miller, for her excellent editorial skills and knowledge of(More)
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