Article
[Molecular diagnosis of Gaucher disease in Tunisia].
Pathologie-biologie - 1 Apr 2013
Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda M C, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi M F
Abstract excerpt
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P...
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