1 | CSID, SI
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| Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
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| Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY.
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| Hum Mutat 27(1):119. 2006
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2 | CSID, SI
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| Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
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| Ritz V, Alfalah M, Zimmer KP, Schmitz J, Jacob R, Naim HY.
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| Gastroenterology 125(6):1678-85. 2003
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3 | CSID, SI
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| Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
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| Ouwendijk J, Moolenaar CE, Peters WJ, Hollenberg CP, Ginsel LA, Fransen JA, Naim HY.
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| J Clin Invest 97(3):633-41. 1996
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4 | SI
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| Analyses of linkage between SI (sucrase-isomaltase) and markers on chromosome 3.
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| Swallow DM, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1881. 1991
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5 | SI
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| Naturally occuring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit.
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| Fransen JAM, et al.
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| J Cell Biol 115 : 45-57. 1991
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6 | SI
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| Regional assignment of the gene coding for human sucrase-isomaltase (SI) to chromosome 3q25-26.
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| West LF, et al.
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| Ann Hum Genet 52 : 57-61. 1988
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7 | SI
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| Mapping of the gene encoding human sucrase-isomaltase (SI) to chromosome 3q25-26.
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| Davis MB, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 604. 1987
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8 | SI
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| Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3.
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| Green F, et al.
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| Gene 57 : 101-110. 1987
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