Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis expensive and time consuming using available methods. To assess the feasibility of target-enrichment and massively parallel sequencing technologies to interrogate all exons of all genes implicated in NSHL,...

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Detaylı Bibliyografya
Asıl Yazarlar: Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2010
Konular:
Biological Sciences
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3000272/
https://ncbi.nlm.nih.gov/pubmed/21078986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1012989107
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