A novel FUCA1 mutation causing fucosidosis in a Chinese boy.
We report a 6-year-old boy with an intermediate form of fucosidosis.
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Department of Paediatrics, Queen Mary Hospital, The University of Hong Kong, China.
Goh
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Chan
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Cheung
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PT
D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D005645:Fucosidosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D005644:alpha-L-Fucosidase / Q000235:genetics
D018389:Codon, Nonsense; D005644:alpha-L-Fucosidase