Associated Papers
Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.
Muncanovic D et al.
Scientific Reports, 2019
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Micaroni M et al.
Cell Death & Disease, 2016
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
Ohtsuka T et al.
Dermatology (basel, Switzerland), 2006
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns.
Ikeda S et al.
The Journal of Investigative Dermatology, 2001
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
Hu Z et al.
Nature Genetics, 2000
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