Article
[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].
Archives de l'Institut Pasteur de Tunis - 1 Jan 2007
Cherif W, Ben Turkia H, Tebib N, Amaral O, Ben Rhouma F, Abdelmoula M S, Azzouz H, Caillaud C, Sà Miranda M-C, Abdelhak S, Ben Dridi M-F
Abstract excerpt
Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and c.84insG). In order to determine the mutation spectrum in...
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