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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Detaylı Bibliyografya
Yayımlandı:J Neurogenet
Asıl Yazarlar: Parker, Brett, Alexander, Ryan, Wu, Xingyao, Feely, Shawna, Shy, Michael, Schnetz-Boutaud, Nathalie, Li, Jun
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
Konular:
Article
Online Erişim: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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