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A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Cragg H, Williamson M, Young E, et al (1997) Fucosidosis: genetic and biochemical analysis of eight cases. J Med Genet 34: 105–110.

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  • Primrose DA (1975) A note on fucosidosis in a mentally subnormal female. J Ment Defic Res 19: 267.

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  • Willems PJ, Gatti R, Darby JK, et al (1991) Fucosidosis revisited: a review of 77 patients. Am J Med Genet 38: 111–131.

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Authors
  1. C. J. Fleming
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  2. D. U. Sinclair
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  3. E. J. White
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  4. B. Winchester
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  5. M. L. Whiteford
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  6. J. M. Connor
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Fleming, C.J., Sinclair, D.U., White, E.J. et al. A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene. J Inherit Metab Dis 21, 688–689 (1998). https://doi.org/10.1023/A:1005405222252

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  • DOI: https://doi.org/10.1023/A:1005405222252

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