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.

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 bo...

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Pubblicato in:	J Clin Invest
Autori principali:	Ouwendijk, J, Moolenaar, C E, Peters, W J, Hollenberg, C P, Ginsel, L A, Fransen, J A, Naim, H Y
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1996
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507098/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8609217/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118459
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