A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey–Hailey disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference12 articles.
1. Autosomal-dominant calcium ATPase disorders;Szigeti;J. Invest. Dermatol.,2006
2. Hailey–Hailey disease: the clinical features response to treatment and prognosis;Burge;Br. J. Dermatol.,1992
3. Mutations in ATP2C1, encoding a calcium pump, cause Hailey–Hailey disease;Hu;Nat. Genet.,2000
4. Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump;Sudbrak;Human Mol. Genet.,2000
5. Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey–Hailey disease;Chao;Br. J. Dermatol.,2002
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease;BMC Medical Genetics;2020-06-01
2. Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population;Medical Science Monitor Basic Research;2017-11-06
3. Four novelATP2C1mutations in Chinese patients with Hailey-Hailey disease;The Journal of Dermatology;2016-10
4. ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking;Cell Death & Disease;2016-06
5. A Novel ATP2C1 Early Truncation Mutation Suggests Haploinsufficiency as a Pathogenic Mechanism in a Patient with Hailey-Hailey Disease;Acta Dermato Venereologica;2013
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