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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...
Tallennettuna:
| Päätekijät: | , , , , , , |
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| Aineistotyyppi: | Artikkeli |
| Kieli: | English |
| Julkaistu: |
1996
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC507098/ https://ncbi.nlm.nih.gov/pubmed/8609217 |
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