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A Novel FMR1 PCR Method that Reproducibly Amplifies Fragile X Full Mutations in Concordance with Southern Blotting and Reliably Detects Low Abundance Expanded Alleles
BACKGROUND: Fragile X Syndrome (FXS) is a trinucleotide repeat disease that is caused by the expansion of CGG sequences in the 5’ untranslated region of the FMR1 gene. Molecular diagnoses of FXS and other emerging FMR1 disorders typically rely on two tests, PCR and Southern blotting. However, perfor...
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| Asıl Yazarlar: | , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2010
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4031651/ https://ncbi.nlm.nih.gov/pubmed/20056738 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2009.136101 |
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