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