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Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Parkinsonism Relat Disord. 2014 Jan;20(1):75-81. doi: 10.1016/j.parkreldis.2013.09.021. Epub 2013 Sep 25.
Parkinsonism Relat Disord. 2014.
PMID: 24094725
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
Chen HI, Jagadeesh KA, Birgmeier J, Wenger AM, Guturu H, Schelley S, Bernstein JA, Bejerano G.
Chen HI, et al.
Eur J Hum Genet. 2018 Dec;26(12):1810-1818. doi: 10.1038/s41431-018-0221-4. Epub 2018 Aug 7.
Eur J Hum Genet. 2018.
PMID: 30087448
Free PMC article.
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