Are splicing mutations the most frequent cause of hereditary disease?
暂无分享,去创建一个
R. Guigó | C. Ouzounis | G. Parra | N. López-Bigas | B. Audit | Genís Parra
[1] D. Cooper,et al. Human Gene Mutation Database , 1996, Human Genetics.
[2] Sara G. Becker-Catania,et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. , 1999, American journal of human genetics.
[3] S Karlin,et al. Why are human G-protein-coupled receptors predominantly intronless? , 1999, Trends in genetics : TIG.
[4] X. Estivill,et al. Splice‐site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome , 1999, Human mutation.
[5] J. Brosius,et al. Many G-protein-coupled receptors are encoded by retrogenes. , 1999, Trends in genetics : TIG.
[6] A. Krainer,et al. Listening to silence and understanding nonsense: exonic mutations that affect splicing , 2002, Nature Reviews Genetics.
[7] S. Amladi,et al. Online Mendelian Inheritance in Man 'OMIM'. , 2003, Indian journal of dermatology, venereology and leprology.
[8] B. Cullen,et al. Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cells. , 2003, RNA.
[9] M. Moore,et al. A quantitative analysis of intron effects on mammalian gene expression. , 2003, RNA.
[10] E. Buratti,et al. Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9* , 2003, Journal of Biological Chemistry.
[11] M. Adams,et al. Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios , 2003, Science.
[12] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[13] T. Cooper,et al. Pre-mRNA splicing and human disease. , 2003, Genes & development.
[14] Maria Jesus Martin,et al. The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003 , 2003, Nucleic Acids Res..
[15] X. Estivill,et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients , 2003, Journal of medical genetics.
[16] J. Thornton,et al. Molecular basis of inherited diseases: a structural perspective. , 2003, Trends in genetics : TIG.
[17] D. Cooper,et al. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences , 1992, Human Genetics.
[18] C. Ouzounis,et al. Genome-wide identification of genes likely to be involved in human genetic disease. , 2004, Nucleic acids research.
[19] Francisco E. Baralle,et al. Genomic variants in exons and introns: identifying the splicing spoilers , 2004, Nature Reviews Genetics.