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Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

Many human diseases result from mutations in specific genes. Once translated, the resulting aberrant proteins may be functionally competent and produced at near-normal levels. However, because of the mutations, the proteins are recognized by the quality control system of the endoplasmic reticulum an...

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Библиографические подробности
Главные авторы: Valenzano, Kenneth J., Khanna, Richie, Powe, Allan C., Boyd, Robert, Lee, Gary, Flanagan, John J., Benjamin, Elfrida R.
Формат: Artigo
Язык:Inglês
Опубликовано: Mary Ann Liebert, Inc. 2011
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3102255/
https://ncbi.nlm.nih.gov/pubmed/21612550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/adt.2011.0370
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