Article
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
The Journal of biological chemistry - 29 Jun 2001
Spodsberg N, Jacob R, Alfalah M, Zimmer K P, Naim H Y
Abstract excerpt
The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency. Molecular characterization of this novel phenotype reveals a point mutation in the coding region of the sucrase-isomaltase (SI) gene that results in an amino acid substitution of a glutamine by arginine...
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