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Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives

1 Mar 2023

Abstract excerpt

Abstract: Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are very rare in all surveyed populations around the globe, except the Arctic-specific c.273_274delAG loss-of-function (LoF) variant, which is common in the Greenlandic...

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PMID: 36994449
DOI: 10.2147/tacg.s401712

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