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In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers
Pharmacogenetics and genomics, 10/30/09
Yamanashi Y et al. – The results account for the reduced intestinal cholesterol absorption in subjects with these six kinds of variants and suggest the possibility of reduced alpha–tocopherol absorption in carriers of the six variants, due to their decreased expression level, altered subcellular localization or lower intrinsic activity compared with wild–type NPC1L1.
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