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JAMA Neurology | November 16, 2015 | Volume: 73 | Issue: 1 | Pages: 102
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
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Neurology | February 9, 2012 | Volume: 78 | Issue: 10 | Pages: 690-695
Physical Mapping of a Translocation Breakpoint in Neurofibromatosis
Fountain, Jane W., BRUCE, M, Seizinger, Bernd R., Menon, Anil G. , Gusella, James F. , Michels, Virginia V., Schmidt, Michael A. , Dewald, Gordon W., Collins, Francis S. , Wallace, Margaret R.
Science | October 5, 2006 | Volume: 244 | Issue: 4908 | Pages: 1085-1087
The gene for von Recklinghausen neurofibromatosis (NF1), one of the most common autosomal-dominant disorders of humans, was recently mapped to chromosome 17 by linkage analysis. The identification of two NF1 patients with balanced translocations that involved chromosome 17q11.2 suggests that the disease can arise by gross rearrangement of the NF1 locus, and that the NF1 gene might be identified by cloning the region around these translocation breakpoints. To further define the region of these translocations, a series of chromosome 17 Not I-linking clones has been mapped to proximal 17q and studied by pulsed-field gel electrophoresis. One clone, 17L1 (D17S133), clearly identifies the breakpoint in an NF1 patient with a t(1;17) translocation. A 2.3-megabase pulsed-field map of this region was constructed and indicates that the NF1 breakpoint is only 10 to 240 kilobases away from 17L1. This finding prepares the way for the cloning of NF1 .