Article
Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Oct 2022
Tasmeen Ruhina, Karim A S M Bazlul, Banu Laila Anjuman, Hossain Enayet, Rokunuzzaman Md, Majumder Wahiduzzaman, Alam Syeda Tabassum, Rasid Rafia, Benzamin Md, Hasan Md Sharif
Abstract excerpt
BACKGROUND : Wilson disease (WD) is an autosomal recessive disorder caused by mutation in the Adenosine Triphosphate 7B (ATP7B) gene. The spectrum of ATP7B mutation varies in different populations. The objective of this study was to identify the mutation in exon 8 and exon 14 of ATP7B gene in Bangladeshi children clinically diagnosed as WD. We also aimed to explore the phenotypic presentation. METHODS: It was a...
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