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References

These sources were used to develop the Genetics Home Reference gene summary on the SI gene.

Entrez Gene
Jacob R, Zimmer KP, Schmitz J, Naim HY. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. J Clin Invest. 2000 Jul;106(2):281-7. PubMed citation
Keiser M, Alfalah M, Pröpsting MJ, Castelletti D, Naim HY. Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency. J Biol Chem. 2006 May 19;281(20):14393-9. Epub 2006 Mar 16. PubMed citation
OMIM: SUCRASE-ISOMALTASE
Ritz V, Alfalah M, Zimmer KP, Schmitz J, Jacob R, Naim HY. Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. Gastroenterology. 2003 Dec;125(6):1678-85. PubMed citation
Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovács JB, Leeb T, Naim HY. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat. 2006 Jan;27(1):119. PubMed citation

Reviewed: July 2008

Published: May 20, 2013