Article
FRAXE mutation in mentally retarded patients using the OxE18 probe.
International journal of molecular medicine - 1 Jan 2000
Mulatinho M V, Llerena J C, Pimentel M M
Abstract excerpt
The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. Although FRAXA and FRAXE are indistinguishable by means of conventional cytogenetics, they can now be delineated at the molecular level and provides the basis for a proper diagnosis. The screening for CGG amplifications in the...
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