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References
These sources were used to develop the Genetics Home Reference
gene summary
on the ATP2A2 gene.
Amichai B, Karpati M, Goldman B, Peleg L. Novel mutations in two families with Darier's disease. Int J Dermatol. 2007 Jan;46(1):64-7.
PubMed citation
Basic Neurochemistry (sixth edition, 1999): ATP-Dependent Ca2+
Pumps
Biochemistry (fifith edition, 2002): Mechanism of P-Type ATPase
Action
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM. Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. Br J Dermatol. 2004 May;150(5):821-8. Review.
PubMed citation
Entrez
Gene
Miyauchi Y, Daiho T, Yamasaki K, Takahashi H, Ishida-Yamamoto A, Danko S, Suzuki H, Iizuka H. Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease. J Biol Chem. 2006 Aug 11;281(32):22882-95. Epub 2006 Jun 9.
PubMed citation
OMIM
Onozuka T, Sawamura D, Yokota K, Shimizu H. Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability. Br J Dermatol. 2004 Apr;150(4):652-7.
PubMed citation
Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol. 2001 Feb;10(1):19-27.
PubMed citation
Reviewed: March 2008
Published: February 6, 2009