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Next Generation Sequencing || NGS Analysis of Heterogeneous Retinitis Pigmentosa

โœ Scribed by Wong, Lee-Jun C.


Book ID
120486338
Publisher
Springer New York
Year
2013
Weight
606 KB
Category
Article
ISBN
1461470013

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Next generation sequencing of pooled sam
โœ Paola Benaglio; Terri L. McGee; Leonardo P. Capelli; Shyana Harper; Eliot L. Ber ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 258 KB

The gene SNRNP200 is composed of 45 exons and encodes a protein essential for pre-mRNA splicing, the 200 kDa helicase hBrr2. Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa (adRP), a retinal degenerative disease, in two families from China. In thi