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gain-of-function mutation |
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gain-of-function mutation Genetics Any mutation that results in a new activity–eg, activation of a proto-oncogene, Cf Loss-of-function mutation. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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| In the end, we must acknowledge that we know very little about the role of gender or hormonal influences on the pathogenesis of LAM, and that it is possible that LAM may result from gain-of-function mutations that do not conform to the tumor suppressor model. Recent studies underscore the high prevalence of the kit D816V gain-of-function mutation in SM patients, with high correlation between mutation detection and the proportion of lesional cells in the sample, as well as the sensitivity of the screening method used (reviewed by Akin33). Liddle's syndrome is due to a ß-ENaC gain-of-function mutation (R566X), which causes systemic hypertension, but not any lung disease (25, 26). |
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