A 5' splice site mutation in fucosidosis.

Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the co...

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Bibliographische Detailangaben
Hauptverfasser: Williamson, M, Cragg, H, Grant, J, Kretz, K, O'Brien, J, Willems, P J, Young, E, Winchester, B
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016303/
https://ncbi.nlm.nih.gov/pubmed/8097260
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