Associated Papers
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
Yang L et al.
Molecular Genetics & Genomic Medicine, 2021
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Nellen RG et al.
Human Mutation, 2017
Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease.
Li H et al.
The Journal of Dermatology, 2016
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Micaroni M et al.
Cell Death & Disease, 2016
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
Ma YM et al.
Archives of Dermatological Research, 2008
[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].
Li XL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
Zhang ZZ et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
Ohtsuka T et al.
Dermatology (basel, Switzerland), 2006
[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].
Li H et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2003
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
Dobson-Stone C et al.
The Journal of Investigative Dermatology, 2002
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