Article
Mutations in fucosidosis gene: a review.
Acta geneticae medicae et gemellologiae - 1 Jan 1995
Tiberio G, Filocamo M, Gatti R, Durand P
Abstract excerpt
Fucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. Up to now 79 cases have been described and several others identified but not yet published. The higher incidence of the disease is in Italy, where nearly 20 patients have been identified. Fourteen disease-causing mutations have been detected and four of them, Q422X, G60D, E375X, P141fs are present in more than 70% of the...
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