Article
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.
The Journal of clinical investigation - 1 Feb 1996
Ouwendijk J, Moolenaar C E, Peters W J, Hollenberg C P, Ginsel L A, Fransen J A, Naim H Y
Abstract excerpt
Congenital sucrase-isomaltase deficiency is an example of a disease in which mutant phenotypes generate transport-incompetent molecules. Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush...
Topics
- Amino Acid Sequence
- Base Sequence
- Biological Transport
- Biopsy
- Breath Tests
- Cell Compartmentation
- Endoplasmic Reticulum
- Fluorescent Antibody Technique
- Humans
- Hydrogen
- Malabsorption Syndromes
- Molecular Sequence Data
- Mutation
- Sucrase-Isomaltase Complex