Restriction analysis of the structural α-L-fucosidase gene and its linkage to fucosidosis

Human α-L-fucosidase is a lysosomal enzyme responsible for hydrolysis of α-L-fucoside linkages in fucoglycoconjugates. A single gene, FUCA 1, located on chromosome 1p34.1–1p36.1 encodes for α-L-fucosidase activity. To gain insight into the nature of the molecular defects leading to fucosidosis, we h...

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Detalhes bibliográficos
Main Authors: Darby, John K., Willems, Patrick J., Nakashima, Phil, Johnsen, Jeff, Ferrell, Robert E., Wijsman, Ellen M., Gerhard, Daniella S., Dracopoli, Nicholas C., Housman, David, Henke, Jurgen, Fowler, Michael L., Shows, Thomas B., O'Brien, John S., Cavalli-Sforza, Luca L.
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715555/
https://ncbi.nlm.nih.gov/pubmed/2903667
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