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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Autores principales: Ouwendijk, J, Moolenaar, C E, Peters, W J, Hollenberg, C P, Ginsel, L A, Fransen, J A, Naim, H Y
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC507098/
https://ncbi.nlm.nih.gov/pubmed/8609217
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