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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat. 2012 Aug;33(8):1207-15. doi: 10.1002/humu.22099. Epub 2012 May 16.
Hum Mutat. 2012.
PMID: 22508683
Free PMC article.
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.
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