Compound Heterozygous Mutations Affect Protein Folding and Function in Patients With Congenital Sucrase-Isomaltase Deficiency
Author:
Publisher
Elsevier BV
Subject
Gastroenterology,Hepatology
Reference30 articles.
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4. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit;Fransen;J Cell Biol,1991
5. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme;Jacob;J Clin Invest,2000
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