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Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)
Myotonic dystrophy type 2 (DM2, OMIM #602688) is a multisystemic hereditary degenerative disease caused by a tetranucleotide CCTG expansion in the ZNF9 gene. Routine testing strategies for DM2 require the use of Southern blot or long-range PCR, but the presence of very large expansions and wide soma...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Investigative Pathology
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2928423/ https://ncbi.nlm.nih.gov/pubmed/20616365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.090239 |
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