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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
Nat Genet. 2000 Jan;24(1):61-5. doi: 10.1038/71701.
Nat Genet. 2000.
PMID: 10615129
Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1).
Fairclough RJ, Dode L, Vanoevelen J, Andersen JP, Missiaen L, Raeymaekers L, Wuytack F, Hovnanian A.
Fairclough RJ, et al.
J Biol Chem. 2003 Jul 4;278(27):24721-30. doi: 10.1074/jbc.M300509200. Epub 2003 Apr 21.
J Biol Chem. 2003.
PMID: 12707275
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