Article

A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in Wilson Disease patients

2021-01-21

Abstract excerpt

<h4>Introduction</h4> Wilson Disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene. Clinical manifestations of WD are variable. Identification of prevalent mutations in a given population is necessary to provide mutation-based molecular diagnosis. Previous studies have detected common mutations in this part of the world and our study aimed to correlate genotype with clinical and rad...

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Literature Corpus work: 91ccdc1b-0a11-5283-be5e-ac20344b1b47
DOI: 10.1101/2021.01.21.427561

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