A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
暂无分享,去创建一个
F. Faravelli | P. Grammatico | F. Forzano | M. Cecconi | E. Di Maria | M. Grasso | R. Rinaldi | S. Cappellacci | F. Dagna Bricarelli
[1] B. Powell,et al. Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high‐functioning fragile X male , 2006, American journal of medical genetics. Part A.
[2] D. Driscoll,et al. Fragile X syndrome: Diagnostic and carrier testing , 2005, Genetics in Medicine.
[3] S. Warren,et al. A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype [Letter To Jmg] , 2005 .
[4] T. Daly,et al. Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay. , 2000, The Journal of molecular diagnostics : JMD.
[5] J. Sutcliffe,et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox , 1991, Cell.
[6] N. Tommerup,et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. , 1991, The New England journal of medicine.