Associated Papers
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.
Senftleber NK et al.
The Application of Clinical Genetics, 2023
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.
Zhou J et al.
Frontiers in Pediatrics, 2021
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Husein DM et al.
Nutrients, 2019
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
Haberman Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.
Gericke B et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
Sander P et al.
Human Mutation, 2006
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