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High Resolution Methylation PCR for Fragile X Analysis: Evidence for Novel FMR1 Methylation Patterns Undetected in Southern Blot Analyses
PURPOSE: Fragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the fragile X mental retardation-1 (FMR1) gene. Molecular diagnosis of fragile X currently requires Southern blot analysis to assess methylation. This study describes the evaluatio...
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主要な著者: | , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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2011
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4043840/ https://ncbi.nlm.nih.gov/pubmed/21430544 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e31820a780f |
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