A missense mutation (S63L) in alpha-L-fucosidase i...[Hum Mol Genet. 1994]

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1: Hum Mol Genet. 1994 Nov;3(11):2065-6.Links

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.

PMID: 7874128 [PubMed - indexed for MEDLINE]

Cloning, expression and map assignment of chicken prosaposin.
Azuma N, Seo HC, Lie O, Fu Q, Gould RM, Hiraiwa M, Burt DW, Paton IR, Morrice DR, O'Brien JS, et al. Biochem J. 1998 Feb 15; 330 ( Pt 1):321-7.

[Biochem J. 1998]
Fucosidosis: genetic and biochemical analysis of eight cases.
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[J Med Genet. 1997]
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[J Med Genet. 1996]

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