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Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease
In several individuals with a Charcot–Marie–Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined by Southern blot analysis, MLPA, vectorette PC...
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| Glavni autori: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987248/ https://ncbi.nlm.nih.gov/pubmed/19888301 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.186 |
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