A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype

The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations have occasionally been reported. Rare polymorphisms might mimic a deletion by Southern blot analysis, leading to false-positive results. We des...

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Bibliographic Details
Main Authors: Cecconi, Massimiliano, Forzano, Francesca, Rinaldi, Rosanna, Cappellacci, Sandra, Grammatico, Paola, Faravelli, Francesca, Dagna Bricarelli, Franca, Di Maria, Emilio, Grasso, Marina
Format: Artigo
Language:Inglês
Published: American Society for Investigative Pathology 2008
Subjects:
Consultations in Molecular Diagnostics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2329793/
https://ncbi.nlm.nih.gov/pubmed/18403614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2008.070163
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