@article {3136445,
	title = {The splicing machinery is a genetic modifier of disease severity},
	journal = {Trends Genet},
	volume = {21},
	year = {2005},
	month = {2005 Sep},
	pages = {480-3},
	abstract = {Disease severity correlates with the level of correctly spliced RNA transcribed from genes carrying splicing mutations and with the ratio of alternatively spliced isoforms. Hence, a role for splicing regulation as a genetic modifier has been suggested. Here we discuss recent experiments that provide direct evidence that changes in the level of splicing factors modulate the splicing pattern of disease-associated genes. Importantly, modulation of the splicing pattern led to regulation of the protein function and modification of disease severity.},
	keywords = {Alternative Splicing, Animals, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Humans, Mice, Mutation, Severity of Illness Index, Transcription Factors},
	issn = {0168-9525},
	doi = {10.1016/j.tig.2005.07.005},
	author = {Nissim-Rafinia, Malka and Kerem, Batsheva}
}
