Article
FMRP expression as a potential prognostic indicator in fragile X syndrome.
American journal of medical genetics - 28 May 1999
Tassone F, Hagerman R J, Iklé D N, Dyer P N, Lampe M, Willemsen R, Oostra B A, Taylor A K
Abstract excerpt
Absence or deficit of FMR1 protein (FMRP) resulting from methylation of full mutation genes is the fundamental defect in fragile X syndrome. We used FMRP immunocytochemistry and detailed phenotypic assessment to investigate the relationship between degree of FMRP expression and the broad clinical spectrum of impairment in 80 individuals affected with fragile X syndrome. FMRP expression correlated with IQ in...
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