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- W1990192893 endingPage "1043" @default.
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- W1990192893 abstract "Familial advanced sleep phase syndrome (FASPS) is an autosomal dominant circadian rhythm variant; affected individuals are morning larks with a 4-hour advance of the sleep, temperature, and melatonin rhythms. Here we report localization of the FASPS gene near the telomere of chromosome 2q. A strong candidate gene (hPer2), a human homolog of the period gene in Drosophila, maps to the same locus. Affected individuals have a serine to glycine mutation within the casein kinase Iepsilon (CKIepsilon) binding region of hPER2, which causes hypophosphorylation by CKIepsilon in vitro. Thus, a variant in human sleep behavior can be attributed to a missense mutation in a clock component, hPER2, which alters the circadian period." @default.
- W1990192893 created "2016-06-24" @default.
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- W1990192893 date "2001-02-09" @default.
- W1990192893 modified "2023-10-17" @default.
- W1990192893 title "An h <i>Per2</i> Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome" @default.
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- W1990192893 doi "https://doi.org/10.1126/science.1057499" @default.
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