CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no sympto...

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Detaylı Bibliyografya
Asıl Yazarlar: Venturini, Giulia, Rose, Anna M., Shah, Amna Z., Bhattacharya, Shomi S., Rivolta, Carlo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2012
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3493449/
https://ncbi.nlm.nih.gov/pubmed/23144630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003040
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