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Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions : a clue to the sex bias in the transmission of full mutations?SALAT, Ulrike ; BARDONI, Barbara ; WÖHRLE, Doris ; STEINBACH, PeterJournal of medical genetics, 2000-11, Vol.37 (11), p.842-850 [Periódico revisado por pares]London: BMJTexto completo disponível |
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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 maleHan, Xiao‐Dong ; Powell, Berkley R. ; Phalin, Judith L. ; Chehab, Farid F.American journal of medical genetics. Part A, 2006-07, Vol.140A (13), p.1463-1471 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutationBrouwer, J.R. ; Mientjes, E.J. ; Bakker, C.E. ; Nieuwenhuizen, I.M. ; Severijnen, L.A. ; Van der Linde, H.C. ; Nelson, D.L. ; Oostra, B.A. ; Willemsen, R.Experimental cell research, 2007-01, Vol.313 (2), p.244-253 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Examination of FMR1 transcript and protein levels among 74 premutation carriersPeprah, Emmanuel ; He, Weiya ; Allen, Emily ; Oliver, Tiffany ; Boyne, Alex ; Sherman, Stephanie LJournal of human genetics, 2010-01, Vol.55 (1), p.66-68 [Periódico revisado por pares]EnglandTexto completo disponível |
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The CGG Repeat and the FMR1 GeneHukema, Renate K. ; Oostra, Ben A. Kohwi, Yoshinori ; McMurray, Cynthia T.Methods in molecular biology (Clifton, N.J.), 2013, Vol.1010, p.155-176Totowa, NJ: Humana PressSem texto completo |