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- W1920005188 abstract "Mutations in pathology and evolution represent two sides of the same coin in that disease-causing mutations tend to be found at those amino acid positions that exhibit the highest degree of evolutionary conservation. An archetypal example of the inter-relationship between pathology and evolution is provided by trypsinogen. Thus, studies of disease-causing mutations in the human cationic trypsinogen gene (PRSS1) have revealed evidence for past gene conversion events between the various gene family members. A combination of the functional characterization of subtle missense mutations with comparative sequence analysis has also revealed evidence for the action of natural selection operating on the trypsinogens during mammalian/vertebrate evolution." @default.
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- W1920005188 date "2008-03-14" @default.
- W1920005188 modified "2023-09-24" @default.
- W1920005188 title "Pathological Missense Mutations Provide New Insights into the Evolution of Trypsinogen Genes" @default.
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- W1920005188 doi "https://doi.org/10.1002/9780470015902.a0006140.pub2" @default.
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