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A novel RNA splicing mutation in Japanese patients with Wilson disease.
Biochem Biophys Res Commun. 1995 Dec 5;217(1):16-20. doi: 10.1006/bbrc.1995.2739.
Biochem Biophys Res Commun. 1995.
PMID: 8526905
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.
Tanzi RE, et al.
Nat Genet. 1993 Dec;5(4):344-50. doi: 10.1038/ng1293-344.
Nat Genet. 1993.
PMID: 8298641
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