The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Kumar M, Sharma S, Pandey S, Mammayil G, Pala Kuzhiyil A, Sreesh S, Arakkal R, Radhakrishnan DM, Rajan R, Amalnath D, Gulati R, Tayade N, Sadasivan S, Valsan A, Menon J, Kamate M, Mathur SK, Mahadevan R, Dhingra B, Rajan R, Singh K, Shalimar, Geevarghese SK, Kumar VS, Menachery J, Aliyar A, Bhoyar RC, Jolly B, Jain A, Vittal Rangan A, Moitra T, Mhaske A, Gupta V, Senthivel V, Mishra A, Saini A, Gaharwar U, Sivasubbu S, Scaria V, B K B.
Kumar M, et al.
Mov Disord Clin Pract. 2024 Nov 13. doi: 10.1002/mdc3.14266. Online ahead of print.
Mov Disord Clin Pract. 2024.
PMID: 39535360
BACKGROUND: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys. ...CONCLUSIONS: This study offers crucial insights into WD's genetic variations and prevalence in India, addressing …
BACKGROUND: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, bra …