Table 1.
Demographic information of children with Wilson’s disease in Pakistan.
Table 2.
Clinical profile of enrolled 40 patients with Wilson’s disease.
Table 3.
Primer sequences for amplification of 4 selected exons of ATP7B gene.
Fig 1.
(A) Graph showing decreased serum ceruloplasmin level in all patients suffering from WD as compared to normal serum ceruloplasmin level among patients enrolled in this study and (B) Graph showing increased copper concentration in urine than normal 200μg/d in patients included in this study.
Fig 2.
(A) Demonstrating younger age of onset of patients with initial liver disease, compared to patients with neurological manifestations in a Pakistani cohort (B) Pathogenic effect prediction output of HSF program for variation L227Yfs*35).
Fig 3.
(A) Pedigree of family of Patient WD-1 and Chromatogram of variation found in exon2 of ATP7B and (B) Chromatograms for Novel Variants found in ATP7B gene.
Table 4.
Shows variation found in selected exons (1, 2, 3, 4) of ATP7B gene along with their frequency among twenty patients (n = 20) included in this study.