Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

Fucosidosis is an autosomal recessive lysosomal storage disorder characterized by progressive neurological deterioration and mental retardation. The disease results from deficient activity of alpha-L-fucosidase (E.C.3.2.1.51), a lysosomal enzyme that hydrolyzes fucose from fucoglycoconjugates. In an...

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Autori principali: Willems, P J, Darby, J K, DiCioccio, R A, Nakashima, P, Eng, C, Kretz, K A, Cavalli-Sforza, L L, Shooter, E M, O'Brien, J S
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1988
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715535/
https://ncbi.nlm.nih.gov/pubmed/2903668
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