A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT

Mutations in PRPF31 have been implicated in retinitis pigmentosa, a blinding disease caused by degeneration of rod photoreceptors. The disease mechanism in the majority of cases is haploinsufficiency. Crucially, attempts at generation of animal models of disease have proved unsuccessful, yielding an...

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Veröffentlicht in:J Mol Genet Med
Hauptverfasser: Rose, Anna M., Shah, Amna Z., Alfano, Giovanna, Bujakowska, Kinga M., Barker, Amy F., Robertson, J Louis, Rahman, Sufia, Sánchez, Lourdes Valdés, Diaz-Corrales, Francisco J., Chakarova, Christina F., Krishna, Abhay, Bhattacharya, Shomi S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4341892/
https://ncbi.nlm.nih.gov/pubmed/25729402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4172/1747-0862.1000067
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