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  • Title: Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.
    Author: Hirst MC, Bell MV, MacKinnon RN, Watson JE, Callen D, Sutherland G, Dahl N, Patterson MN, Schwartz C, Ledbetter D.
    Journal: Am J Med Genet; 1991; 38(2-3):354-6. PubMed ID: 1673311.
    Abstract:
    We have localized the gene encoding a cerebellar degeneration related (CDR) protein to a region proximal to the fragile site close to DXS98 and DXS105. This gene is polymorphic with the enzyme RsaI and therefore also provides a new genetic marker in this region. We have refined the localization of the locus DXS304 distal to the breakpoint in a patient suffering from Hunter disease. This confirms the localization of DXS304 distal to the fragile site previously suggested by linkage studies and localizes the fragile X mutation to a relatively small region between the Hunter breakpoint and the breakpoint in another hybrid B17.
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