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Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Parkinsonism & related disorders - 1 Jan 2014

Mukherjee Shashwata, Dutta Shruti, Majumdar Sulagna, Biswas Tamoghna, Jaiswal Preeti, Sengupta Mainak, Bhattacharya Abhisek, Gangopadhyay Prasanta K, Bavdekar Ashish, Das Shyamal K, Ray Kunal

Abstract excerpt

Wilson disease (WD) is caused by defects in ATP7B gene due to impairment of normal function of the copper transporting P-type ATPase. This study describes a comprehensive genetic analysis of 199 Indian WD patients including mutations detected in our previous studies, undertakes functional assessment of the nucleotide variants in ATP7B promoter and correlates genotype with disease phenotype. The patient cohort...

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PMID: 24094725
DOI: 10.1016/j.parkreldis.2013.09.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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