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PubMed (cited) for id: 603864

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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J. Huppke P, et al. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Am J Hum Genet. 2012. PMID: 22243965 Free PMC article.
The copper chaperone for superoxide dismutase.
Culotta VC, Klomp LW, Strain J, Casareno RL, Krems B, Gitlin JD. Culotta VC, et al. J Biol Chem. 1997 Sep 19;272(38):23469-72. doi: 10.1074/jbc.272.38.23469. J Biol Chem. 1997. PMID: 9295278 Free article.