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Detection of copy number variation by SNP-allelotyping
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by an abnormal copy number variation (CNV) with a trisomy of chromosome 17p12. The increase of the DNA-segment copy number is expected to alter the allele frequency of single nucleotide polymorphism (SNP) within the duplicated region. We tested w...
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| Publicado en: | J Neurogenet |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4254366/ https://ncbi.nlm.nih.gov/pubmed/24830919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/01677063.2014.923884 |
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