| 1 | FUCA1D
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| Characteristic MR spectroscopy in fucosidosis: in vitro investigation.
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| Mamourian AC, Hopkin JR, Chawla S, Poptani H.
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| Pediatr Radiol ediatr Radiol. 2010 Mar 25. [Epub ahead of print] 2010
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| 2 | FUCA1D
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| Phenotypic spectrum of fucosidosis in Tunisia.
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| Turkia HB, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF.
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| J Inherit Metab Dis Inherit Metab Dis. 2008 Jul 27. [Epub ahead of print] 2008
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| 3 | FUCA1D
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| Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.
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| Prietsch V, Arnold S, Kraegeloh-Mann I, Kuehr J, Santer R.
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| Neuropediatrics 39(1):51-4. 2008
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| 4 | FUCA1, FUCA1D
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| Mutation identification and characterization of a Taiwanese patient with fucosidosis.
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| Lin SP, Chang JH, de la Cadena MP, Chang TF, Lee-Chen GJ.
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| J Hum Genet 52(6):553-6. Epub 2007 Apr 11. 2007
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| 5 | FUCA1, FUCA1D
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| Spectrum of mutations in fucosidosis.
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| Willems PJ, et al.
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| Eur J Hum Genet 7(1):60-7. 1999
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| 6 | FUCA1, FUCA1D
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| A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.
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| Seo HC, et al.
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| Hum Mutat 7 : 183. 1996
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| 7 | FUCA1, FUCA1D
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| A nonsense mutation in two German patients with fucosidosis.
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| Seo HC, et al.
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| Hum Mutat 6 : 184-185. 1995
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| 8 | FUCA1, FUCA1D
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| A single-base deletion mutation in a Turkish patient with fucosidosis.
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| Seo HC, et al.
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| Hum Mutat 3 : 407-408. 1994
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| 9 | FUCA1, FUCA1D
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| A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
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| Seo HC, et al.
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| Hum Mol Genet 3 : 2065-2066. 1994
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| 10 | FUCA1, FUCA1D
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| Fucosidosis : four new mutations and a new polymorphism.
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| Seo HC, et al.
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| Hum Mol Genet 2 : 423-429. 1993
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| 11 | FUCA1, FUCA1D
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| Six additional mutations in fucosidosis : three nonsense mutations and three frameshift mutations.
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| Seo HC, et al.
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| Hum Mol Genet 2 : 1205-1208. 1993
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| 12 | FUCA1, FUCA1D
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| A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.
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| Yang M, et al.
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| Biochem Biophys Res Commun 189 : 1063-1068. 1992
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| 13 | FUCA1D
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| Fucosidosis revisited: a review of 77 patients.
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| Willems PJ, et al.
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| Am J Med Genet 38 : 111-131. 1991
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| 14 | FUCA1, FUCA1D
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| Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
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| Willems PJ, Darby JK, DiCioccio RA, Nakashima P, Eng C, Kretz KA, Cavalli-Sforza LL, Shooter EM, O'Brien JS.
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| Am J Hum Genet 43 : 756-763. 1988
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