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Article

Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit.

The Journal of cell biology - 1 Oct 1991

Fransen J A, Hauri H P, Ginsel L A, Naim H Y

Abstract excerpt

Mutations in the sucrase-isomaltase gene can lead to the synthesis of transport-incompetent or functionally altered enzyme in congenital sucrase-isomaltase deficiency (CSID) (Naim, H. Y., J. Roth, E. Sterchi, M. Lentze, P. Milla, J. Schmitz, and H. P. Hauri. J. Clin. Invest. 82:667-679). In this paper we have characterized two novel mutant phenotypes of CSID at the subcellular and protein levels. The first...

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Identifiers

PMID: 1717481
DOI: 10.1083/jcb.115.1.45
PMCID: PMC2289914

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