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1
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
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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 male

Han, 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 Company

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2
Examination of FMR1 transcript and protein levels among 74 premutation carriers
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Examination of FMR1 transcript and protein levels among 74 premutation carriers

Peprah, Emmanuel ; He, Weiya ; Allen, Emily ; Oliver, Tiffany ; Boyne, Alex ; Sherman, Stephanie L

Journal of human genetics, 2010-01, Vol.55 (1), p.66-68 [Periódico revisado por pares]

England

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3
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan
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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan

Fatima, Tasneem ; Zaidi, Syed Aley Hasan ; Sarfraz, Noorjehan ; Perween, Siddiqa ; Khurshid, Faraz ; Imtiaz, Fauzia

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1151-1161 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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