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In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence

The genetic trait that allows intestinal lactase to persist into adulthood in some 35% of humans worldwide operates at the level of transcription, the effect being caused by cis‐acting nucleotide changes upstream of the lactase gene (LCT). A single nucleotide substitution, ‐13910 C>T, the first c...

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Detalhes bibliográficos
Publicado no:Ann Hum Genet
Main Authors: Liebert, Anke, Jones, Bryony L., Danielsen, Erik Thomas, Olsen, Anders Krüger, Swallow, Dallas M., Troelsen, Jesper T.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5129500/
https://ncbi.nlm.nih.gov/pubmed/27714771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12167
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