A novel FUCA1 mutation causing fucosidosis in a Ch...[J Inherit Metab Dis. 2002]

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1: J Inherit Metab Dis. 2002 Sep;25(5):415-6. Links

A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

Department of Paediatrics, Queen Mary Hospital, The University of Hong Kong, China.

We report a 6-year-old boy with an intermediate form of fucosidosis.

PMID: 12408193 [PubMed - indexed for MEDLINE]

A 5' splice site mutation in fucosidosis.
J Med Genet. 1993 Mar; 30(3):218-23.

[J Med Genet. 1993]
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
Hum Mol Genet. 1993 Aug; 2(8):1205-8.

[Hum Mol Genet. 1993]
A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
Hum Mol Genet. 1994 Nov; 3(11):2065-6.

[Hum Mol Genet. 1994]
ReviewSpectrum of mutations in fucosidosis.
Eur J Hum Genet. 1999 Jan; 7(1):60-7.

[Eur J Hum Genet. 1999]
ReviewMutations in fucosidosis gene: a review.
Acta Genet Med Gemellol (Roma). 1995; 44(3-4):223-32.

[Acta Genet Med Gemellol (Roma). 1995]
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