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References

These sources were used to develop the Genetics Home Reference gene summary on the ATP2A1 gene.

Entrez Gene
Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet. 1996 Oct;14(2):191-4. PubMed citation
OMIM: ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1
Shull GE, Okunade G, Liu LH, Kozel P, Periasamy M, Lorenz JN, Prasad V. Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants. Ann N Y Acad Sci. 2003 Apr;986:453-60. Review. PubMed citation
Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. doi: 10.1097/NEN.0b013e3181d0f7d5. PubMed citation

Reviewed: January 2012

Published: June 17, 2013