Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

The goal of our research is to identify genes and mutations causing auto-somal dominant retinitis pigmentosa (adRP). For this purpose we established a cohort of more than 250 independently ascertained families with adRP in the Houston Laboratory for Molecular Diagnosis of Inherited Eye Diseases. Aff...

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Hlavní autoři: Daiger, Stephen P., Bowne, Sara J., Sullivan, Lori S., Blanton, Susan H., Weinstock, George M., Koboldt, Daniel C., Fulton, Robert S., Larsen, David, Humphries, Peter, Humphries, Marian M., Pierce, Eric A., Chen, Rui, Li, Yumei
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121110/
https://ncbi.nlm.nih.gov/pubmed/24664689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-1-4614-3209-8_16
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