FXTAS: A progressive neurologic syndrome associated with fragile X premutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-005-0065-5.pdf
Reference51 articles.
1. Fu YH, Kuhl DP, Pizzuti A, et al.: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047–1058.
2. Verkerk AJ, Pieretti M, Sutcliffe JS, et al.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905–914.
3. Oberlé I, Rousseau F, Heitz D, et al.: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097–1102.
4. Sutcliffe JS, Nelson DL, Zhang F, et al.: DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992, 1:397–400.
5. Pieretti M, Zhang FP, Fu YH et al.: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991, 66:817–822.
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