A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

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ID: 273630
2009
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Abstract
Nonsense SNPs introduce premature termination codons into genes and can result in the absence of a gene product or in a truncated and potentially harmful protein, so they are often considered disadvantageous and are associated with disease susceptibility. As such, we might expect the disrupted allel …
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Authors Yngvadottir B;Xue Y;Searle S;Hunt S;Delgado M;Morrison J;Whittaker P;Deloukas P;Tyler-Smith C;;
Journal American journal of human genetics
Year 2009
DOI
DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/19200524
Keywords
Evolution National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support non-u.s. gov't codon Molecular* Genotype Polymorphism chromosome mapping carrier proteins / genetics dna primers single nucleotide* homozygote heterozygote dna / genetics chris tyler-smith pmid:19200524 pmc2668024 doi:10.1016/j.ajhg.2009.01.008 bryndis yngvadottir yali xue actinin / genetics caspase 12 / genetics nonsense / genetics* frameshift mutation nerve tissue proteins / genetics open reading frames / genetics

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