In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading
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Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
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Erosion of the telomeric single-strand overhang at replicative senescence
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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
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Genome imprinting regulated by the mouse Polycomb group protein Eed
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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
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Transcription-associated mutational asymmetry in mammalian evolution
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Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
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Sir3p phosphorylation by the Slt2p pathway effects redistribution of silencing function and shortened lifespan
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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
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