Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Artigo
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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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Material Type: Artigo
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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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3 |
Material Type: Artigo
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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in PakistanFatima, Tasneem ; Zaidi, Syed Aley Hasan ; Sarfraz, Noorjehan ; Perween, Siddiqa ; Khurshid, Faraz ; Imtiaz, FauziaAmerican journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1151-1161 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |