Article
A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.
European journal of neurology - 1 Feb 2004
Al Jumah M, Majumdar R, Al Rajeh S, Awada A, Al Zaben A, Al Traif I, Al Jumah A R, Rehana Z
Abstract excerpt
Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron-exon boundaries were screened for...
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