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Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of ∼1.5 Mb from 17q11.2 covering ⩾11 genes in 5%–20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used single-copy DNA fragments from the extreme ends of the deleted segment to perform FISH on metaphase...
Large deletions of the NF1 locus occur in 5 to 10% of patients with neurofibromatosis and are commonly associated with specific additional abnormalities characterized by mental retardation, dysmorphic features, and intellectual impairment. To characterize the extent of codeleted genes we constructed a long-range physical BAC/PAC map around the NF1 locus between D17S117 and D17S57 and determined the...
TheDrosophilagenedead ringer (dri)was isolated as a novel gene encoding a sequence-specific DNA-binding protein. DRI is a founding member of a growing protein family whose members share a conserved DNA binding domain termed the A/T-rich interaction domain.driis developmentally regulated, being expressed in a restricted set of cells including some neural cells and differentiating cells of the gut and...
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